Variant report

Variant	esv1802977
Chromosome Location	chr19:42754437-42789945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42784604-42784632	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42786054-42786370	K562	blood:	n/a	n/a
3	ARID3A	chr19:42760182-42760245	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:42772131-42772978	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:42758231-42758441	HepG2	liver:	n/a	chr19:42758308-42758323
6	ARID3A	chr19:42759213-42759389	K562	blood:	n/a	n/a
7	ARID3A	chr19:42758319-42758488	K562	blood:	n/a	n/a
8	ARID3A	chr19:42772016-42773501	K562	blood:	n/a	n/a
9	ARID3A	chr19:42759141-42759428	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:42784070-42784254	HepG2	liver:	n/a	n/a
11	ATF1	chr19:42771939-42773502	K562	blood:	n/a	n/a
12	ATF1	chr19:42759190-42759513	K562	blood:	n/a	chr19:42759346-42759360
13	ATF2	chr19:42756773-42757079	GM12878	blood:	n/a	chr19:42756902-42756913 chr19:42756900-42756914
14	ATF2	chr19:42787227-42787993	GM12878	blood:	n/a	n/a
15	ATF2	chr19:42759074-42759465	GM12878	blood:	n/a	chr19:42759346-42759360 chr19:42759348-42759359
16	ATF2	chr19:42771881-42773338	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr19:42756716-42757795	GM12878	blood:	n/a	chr19:42756902-42756913 chr19:42756900-42756914
18	ATF2	chr19:42784275-42784981	GM12878	blood:	n/a	n/a
19	ATF2	chr19:42784566-42784826	GM12878	blood:	n/a	n/a
20	ATF2	chr19:42771955-42773447	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr19:42772120-42773434	GM12878	blood:	n/a	n/a
22	ATF2	chr19:42787616-42787880	GM12878	blood:	n/a	n/a
23	ATF2	chr19:42774483-42775137	GM12878	blood:	n/a	n/a
24	ATF2	chr19:42772114-42773441	GM12878	blood:	n/a	n/a
25	ATF3	chr19:42785927-42786339	K562	blood:	n/a	n/a
26	ATF3	chr19:42771594-42773486	A549	lung:	n/a	chr19:42772602-42772615 chr19:42773461-42773470 chr19:42773235-42773244 chr19:42772828-42772836
27	ATF3	chr19:42784032-42784209	GM12878	blood:	n/a	n/a
28	ATF3	chr19:42783631-42784898	A549	lung:	n/a	chr19:42784295-42784304 chr19:42784547-42784556 chr19:42784588-42784597
29	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
30	ATF3	chr19:42772107-42772785	K562	blood:	n/a	chr19:42772602-42772615
31	ATF3	chr19:42756849-42757876	A549	lung:	n/a	chr19:42756900-42756915 chr19:42756902-42756913 chr19:42756902-42756915 chr19:42756904-42756914 chr19:42756904-42756914 chr19:42756901-42756912 chr19:42756902-42756913 chr19:42756898-42756912 chr19:42756904-42756911 chr19:42756903-42756911 chr19:42756901-42756914 chr19:42756903-42756914 chr19:42756900-42756911 chr19:42757284-42757293 chr19:42756901-42756914
32	ATF3	chr19:42783958-42784261	HepG2	liver:	n/a	n/a
33	ATF3	chr19:42758213-42758878	A549	lung:	n/a	chr19:42758775-42758784
34	ATF3	chr19:42759232-42759471	K562	blood:	n/a	chr19:42759338-42759358 chr19:42759347-42759360 chr19:42759384-42759393 chr19:42759348-42759359 chr19:42759350-42759360 chr19:42759348-42759361 chr19:42759349-42759369 chr19:42759346-42759361 chr19:42759350-42759361
35	ATF3	chr19:42756667-42757019	K562	blood:	n/a	chr19:42756900-42756915 chr19:42756902-42756913 chr19:42756902-42756915 chr19:42756904-42756914 chr19:42756904-42756914 chr19:42756901-42756912 chr19:42756902-42756913 chr19:42756898-42756912 chr19:42756904-42756911 chr19:42756903-42756911 chr19:42756901-42756914 chr19:42756903-42756914 chr19:42756900-42756911 chr19:42756901-42756914
36	ATF3	chr19:42771750-42773329	A549	lung:	n/a	chr19:42772602-42772615 chr19:42773235-42773244 chr19:42772828-42772836
37	ATF3	chr19:42772414-42773029	K562	blood:	n/a	chr19:42772602-42772615 chr19:42772828-42772836
38	ATF3	chr19:42758095-42758866	A549	lung:	n/a	chr19:42758775-42758784
39	ATF3	chr19:42783929-42784266	K562	blood:	n/a	n/a
40	ATF3	chr19:42786028-42786205	K562	blood:	n/a	n/a
41	ATF3	chr19:42762745-42762972	K562	blood:	n/a	n/a
42	ATF3	chr19:42788430-42788681	K562	blood:	n/a	n/a
43	ATF3	chr19:42783212-42785007	A549	lung:	n/a	chr19:42784295-42784304 chr19:42784977-42784986 chr19:42784547-42784556 chr19:42784588-42784597
44	ATF3	chr19:42758914-42759589	A549	lung:	n/a	chr19:42759338-42759358 chr19:42759347-42759360 chr19:42759118-42759127 chr19:42759384-42759393 chr19:42759348-42759359 chr19:42759350-42759360 chr19:42759348-42759361 chr19:42759349-42759369 chr19:42759346-42759361 chr19:42759350-42759361
45	ATF3	chr19:42783903-42784198	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr19:42784616-42784957	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr19:42758210-42759546	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr19:42772085-42772578	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr19:42788946-42789034	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr19:42786016-42786341	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42777927-42777977	HNPCEpiC	eye:	n/a
2	chr19:42777927-42777977	HNPCEpiC	eye:	n/a
3	chr19:42777487-42777537	HAEpiC	amniotic membrane:	n/a
4	chr19:42759227-42759277	SK-N-SH_RA	brain:	n/a
5	chr19:42759518-42759568	NH-A	brain:	n/a
6	chr19:42788966-42789016	NB4	blood:	n/a
7	chr19:42785474-42785524	AG09319	gingival:	n/a
8	chr19:42759231-42759281	NB4	blood:	n/a
9	chr19:42755793-42755843	ProgFib	skin:	n/a
10	chr19:42777487-42777537	H1-hESC	embryonic stem cell:	embryo
11	chr19:42788257-42788307	HepG2	liver:	n/a
12	chr19:42774803-42774853	SAEC	small airway:	n/a
13	chr19:42778755-42778805	SKMC	muscle:	n/a
14	chr19:42760199-42760249	NH-A	brain:	n/a
15	chr19:42788848-42788898	AG04450	lung:	fetal
16	chr19:42772233-42772283	SK-N-SH_RA	brain:	n/a
17	chr19:42777487-42777537	Jurkat	blood:	n/a
18	chr19:42773364-42773414	AG04450	lung:	fetal
19	chr19:42768724-42768774	HRE	kidney:	n/a
20	chr19:42757846-42757896	HCM	heart:	n/a
21	chr19:42757867-42757917	HIPEpiC	eye:	n/a
22	chr19:42788248-42788298	NB4	blood:	n/a
23	chr19:42772446-42772496	HMEC	breast:	n/a
24	chr19:42788966-42789016	HRPEpiC	eye:	n/a
25	chr19:42758976-42759026	ECC-1	luminal epithelium:	n/a
26	chr19:42788257-42788307	SK-N-MC	brain:	n/a
27	chr19:42774330-42774380	CMK	blood:	n/a
28	chr19:42777927-42777977	GM06990	blood:	n/a
29	chr19:42759227-42759277	NHDF-neo	bronchial:	n/a
30	chr19:42777626-42777676	HCT-116	colon:	n/a
31	chr19:42772892-42772942	NH-A	brain:	n/a
32	chr19:42787762-42787812	PrEC	prostate:	n/a
33	chr19:42776879-42776929	AG04450	lung:	fetal
34	chr19:42787762-42787812	AG10803	skin:	n/a
35	chr19:42759035-42759085	RPTEC	kidney:	n/a
36	chr19:42774330-42774380	HRCEpiC	kidney:	n/a
37	chr19:42772831-42772881	PANC-1	pancreas:	n/a
38	chr19:42759518-42759568	PFSK-1	brain:	n/a
39	chr19:42758009-42758059	HCM	heart:	n/a
40	chr19:42785225-42785275	Caco-2	colon:	n/a
41	chr19:42777626-42777676	Hela-S3	cervix:	n/a
42	chr19:42776879-42776929	PrEC	prostate:	n/a
43	chr19:42788257-42788307	AG04450	lung:	fetal
44	chr19:42757867-42757917	SK-N-MC	brain:	n/a
45	chr19:42774330-42774380	NHBE	bronchial:	n/a
46	chr19:42758009-42758059	SK-N-SH_RA	brain:	n/a
47	chr19:42757867-42757917	ovcar-3	ovarian:	n/a
48	chr19:42776879-42776929	Hepatocyte	liver:	n/a
49	chr19:42774330-42774380	SK-N-SH	brain:	n/a
50	chr19:42759569-42759619	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42773801..42775756-chr19:42804416..42807088,2	K562	blood:
2	chr19:42580276..42583237-chr19:42757851..42759811,2	K562	blood:
3	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
4	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:
5	chr19:42720002..42723178-chr19:42782377..42785942,3	MCF-7	breast:
6	chr19:42756817..42759213-chr19:42911036..42912786,2	MCF-7	breast:
7	chr19:42757990..42761273-chr19:42805380..42807935,4	MCF-7	breast:
8	chr19:42771105..42773106-chr19:42805155..42808634,5	K562	blood:
9	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
10	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
11	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
12	chr19:42754219..42757685-chr19:42805206..42807524,5	MCF-7	breast:
13	chr19:42756055..42758912-chr19:42766022..42767833,2	MCF-7	breast:
14	chr19:42768481..42770570-chr19:42770967..42773649,2	K562	blood:
15	chr19:42635908..42637721-chr19:42758077..42760755,2	K562	blood:
16	chr19:42758106..42760087-chr19:42829469..42831268,2	MCF-7	breast:
17	chr19:42578926..42581417-chr19:42757384..42759123,2	K562	blood:
18	chr19:42722598..42724600-chr19:42754486..42756039,2	MCF-7	breast:
19	chr19:42750067..42750945-chr19:42783006..42783636,2	K562	blood:
20	chr19:42783597..42784516-chr4:169552208..169552881,2	HCT-116	colon:
21	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
22	chr12:49524528..49525157-chr19:42787936..42788663,3	Hela-S3	cervix:
23	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
24	chr19:42756858..42760226-chr19:42804706..42807905,7	K562	blood:
25	chr19:42756164..42759141-chr5:40680173..40681787,2	MCF-7	breast:
26	chr19:42757683..42758243-chr5:108745290..108746262,2	Hela-S3	cervix:
27	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:
28	chr1:210059116..210059619-chr19:42758225..42758725,2	Hela-S3	cervix:
29	chr19:42754290..42756701-chr19:42804402..42806386,2	K562	blood:
30	chr19:42719792..42722067-chr19:42782556..42784868,3	MCF-7	breast:
31	chr19:42578746..42580250-chr19:42784655..42786734,2	K562	blood:
32	chr19:42753011..42753994-chr19:42784711..42785693,2	K562	blood:
33	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
34	chr19:42637330..42637861-chr19:42783717..42784569,2	MCF-7	breast:
35	chr19:42763894..42766848-chr19:42772974..42774684,3	MCF-7	breast:
36	chr19:42784111..42786546-chr19:42805337..42807099,2	K562	blood:
37	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
38	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
39	chr19:42757687..42760394-chr19:42806453..42809186,2	MCF-7	breast:
40	chr19:42719999..42721511-chr19:42755568..42757404,2	MCF-7	breast:
41	chr19:42756858..42762075-chr19:42803237..42807691,9	K562	blood:
42	chr19:42720551..42722123-chr19:42758184..42760229,2	MCF-7	breast:
43	chr12:120729670..120732552-chr19:42756449..42758541,2	K562	blood:
44	chr19:42757670..42761057-chr19:42823055..42828263,5	K562	blood:
45	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
46	chr19:42784279..42785802-chr19:42816583..42819051,2	MCF-7	breast:
47	chr12:120729494..120731830-chr19:42774117..42775700,2	MCF-7	breast:
48	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
49	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
50	chr19:42758633..42759495-chr4:150999375..150999897,2	Hela-S3	cervix:

Variant related genes	Relation type
CIC	TF binding region
ENSG00000268643	TF binding region
ERF	TF binding region
CIC	CpG island
ENSG00000268643	CpG island
ERF	CpG island
ENSG00000108107	chromatin interactions
ENSG00000142046	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000167625	chromatin interactions
ENSG00000198961	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000204957	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000028277	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000079435	chromatin interactions
ENSG00000129116	chromatin interactions
ENSG00000105732	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000160932	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000167619	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000170390	chromatin interactions

Extended variants
information (count: 1157 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1468691	chr19:42754437-42754438	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs376779346	chr19:42754438-42754439	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs371362840	chr19:42754439-42754440	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs201149950	chr19:42754440-42754441	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565589321	chr19:42754447-42754448	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs370015013	chr19:42754462-42754463	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs137956794	chr19:42754475-42754476	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs376888072	chr19:42754506-42754507	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs370521331	chr19:42754531-42754532	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs141468833	chr19:42754541-42754542	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs150347249	chr19:42754590-42754591	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs192294053	chr19:42754608-42754609	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs111300456	chr19:42754633-42754634	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs538509042	chr19:42754680-42754681	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs371076249	chr19:42754704-42754705	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs375582175	chr19:42754707-42754708	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs569171834	chr19:42754710-42754711	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs200969503	chr19:42754716-42754717	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs371399184	chr19:42754725-42754726	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs199685654	chr19:42754726-42754727	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs545519539	chr19:42754746-42754747	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs375067175	chr19:42754747-42754748	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs77733872	chr19:42754871-42754872	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs572388338	chr19:42754909-42754910	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs542991772	chr19:42754911-42754912	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs561054749	chr19:42754912-42754913	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs111862714	chr19:42754938-42754939	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs111769884	chr19:42754940-42754941	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs543273177	chr19:42754941-42754942	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs532174730	chr19:42754947-42754948	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs547132770	chr19:42754964-42754965	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs143398371	chr19:42754967-42754968	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs375117055	chr19:42754970-42754971	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs529687256	chr19:42755061-42755062	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs570779632	chr19:42755146-42755147	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs548913874	chr19:42755198-42755199	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs72204758	chr19:42755229-42755230	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs569513477	chr19:42755254-42755255	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs369998142	chr19:42755301-42755302	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs538546702	chr19:42755328-42755329	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs13382091	chr19:42755344-42755345	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs144859124	chr19:42755418-42755419	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs550448475	chr19:42755467-42755468	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs571916057	chr19:42755490-42755491	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs539225328	chr19:42755575-42755576	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs374697713	chr19:42755595-42755596	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs9677031	chr19:42755605-42755606	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9676274	chr19:42755606-42755607	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs2615616	chr19:42755613-42755614	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs9677032	chr19:42755614-42755615	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3249 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42749000-42757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:42749400-42754600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:42749400-42754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:42749400-42755000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:42749400-42755800	Enhancers	Fetal Heart	heart
6	chr19:42749400-42756200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:42749600-42754800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:42749600-42755000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:42750000-42755000	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr19:42750400-42755200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:42750600-42754600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:42750600-42755600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42750800-42754600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:42750800-42754600	Strong transcription	Fetal Intestine Large	intestine
15	chr19:42750800-42754600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr19:42750800-42755000	Strong transcription	Dnd41	blood
17	chr19:42751000-42754800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:42751000-42756200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:42751200-42754800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr19:42751200-42755400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:42751400-42754600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:42751400-42755000	Weak transcription	GM12878-XiMat	blood
23	chr19:42751600-42754600	Weak transcription	HSMM	muscle
24	chr19:42752200-42754600	Genic enhancers	Stomach Smooth Muscle	stomach
25	chr19:42752400-42754600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:42752400-42755000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:42752600-42754600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:42752600-42754600	Strong transcription	Thymus	Thymus
29	chr19:42752600-42754600	Genic enhancers	HMEC	breast
30	chr19:42752600-42754800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:42752600-42754800	Genic enhancers	Right Ventricle	heart
32	chr19:42752600-42755000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:42752600-42755600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:42752600-42757400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:42752800-42754600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr19:42752800-42754600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:42752800-42754600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr19:42752800-42754600	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr19:42752800-42754600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:42752800-42754800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:42752800-42754800	Genic enhancers	Liver	Liver
42	chr19:42752800-42754800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:42753000-42754800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:42753000-42755000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:42753200-42754600	Genic enhancers	Placenta	Placenta
46	chr19:42753200-42754800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:42753400-42754600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:42753400-42755000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:42753600-42754600	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr19:42753600-42754800	Genic enhancers	Pancreas	Pancrea

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