Variant report

Variant	nsv911787
Chromosome Location	chr19:42773862-42795554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2425)
CpG islands
(count:1284)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2425 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

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	chr19:42784070-42784254	HepG2	liver:	n/a	n/a
4	ATF2	chr19:42787227-42787993	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42787616-42787880	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42784275-42784981	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42784566-42784826	GM12878	blood:	n/a	n/a
8	ATF2	chr19:42774483-42775137	GM12878	blood:	n/a	n/a
9	ATF3	chr19:42783903-42784198	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr19:42783958-42784261	HepG2	liver:	n/a	n/a
11	ATF3	chr19:42786028-42786205	K562	blood:	n/a	n/a
12	ATF3	chr19:42783631-42784898	A549	lung:	n/a	chr19:42784295-42784304 chr19:42784547-42784556 chr19:42784588-42784597
13	ATF3	chr19:42784032-42784209	GM12878	blood:	n/a	n/a
14	ATF3	chr19:42783212-42785007	A549	lung:	n/a	chr19:42784295-42784304 chr19:42784977-42784986 chr19:42784547-42784556 chr19:42784588-42784597
15	ATF3	chr19:42788430-42788681	K562	blood:	n/a	n/a
16	ATF3	chr19:42794959-42795528	A549	lung:	n/a	n/a
17	ATF3	chr19:42785927-42786339	K562	blood:	n/a	n/a
18	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
19	ATF3	chr19:42783929-42784266	K562	blood:	n/a	n/a
20	BACH1	chr19:42788946-42789034	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:42787212-42787922	K562	blood:	n/a	n/a
22	BACH1	chr19:42784616-42784957	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr19:42785614-42785782	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr19:42786016-42786341	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr19:42787588-42788270	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr19:42774513-42775041	GM12878	blood:	n/a	n/a
27	BATF	chr19:42781008-42781295	GM12878	blood:	n/a	chr19:42781138-42781149
28	BCL3	chr19:42771554-42773882	A549	lung:	n/a	chr19:42773504-42773513 chr19:42773235-42773248
29	BCL3	chr19:42787345-42788075	A549	lung:	n/a	n/a
30	BCL3	chr19:42793830-42794418	A549	lung:	n/a	n/a
31	BCL3	chr19:42794894-42795513	A549	lung:	n/a	n/a
32	BCL3	chr19:42783261-42788037	A549	lung:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42785738-42785746 chr19:42785147-42785160 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
33	BCL3	chr19:42783678-42785108	A549	lung:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
34	BCL3	chr19:42788764-42791111	A549	lung:	n/a	chr19:42790126-42790135 chr19:42788787-42788800 chr19:42789902-42789911 chr19:42789870-42789879
35	BCL3	chr19:42783697-42784878	GM12878	blood:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
36	BCL3	chr19:42774326-42775876	A549	lung:	n/a	chr19:42774782-42774795
37	BCLAF1	chr19:42783813-42785017	GM12878	blood:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
38	BCLAF1	chr19:42774425-42775029	GM12878	blood:	n/a	chr19:42774782-42774795
39	BCLAF1	chr19:42787182-42787829	GM12878	blood:	n/a	n/a
40	BHLHE40	chr19:42788293-42788691	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:42774719-42775101	GM12878	blood:	n/a	n/a
42	BHLHE40	chr19:42784510-42784955	HepG2	liver:	n/a	n/a
43	BHLHE40	chr19:42783931-42785017	GM12878	blood:	n/a	chr19:42784097-42784113 chr19:42784098-42784114
44	BHLHE40	chr19:42774804-42775029	K562	blood:	n/a	n/a
45	BHLHE40	chr19:42789815-42789898	GM12878	blood:	n/a	n/a
46	BHLHE40	chr19:42786059-42786271	K562	blood:	n/a	n/a
47	BHLHE40	chr19:42790496-42790932	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:42781029-42781422	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:42788998-42789304	GM12878	blood:	n/a	n/a
50	BHLHE40	chr19:42784571-42785045	K562	blood:	n/a	n/a

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42785225-42785275	PFSK-1	brain:	n/a
2	chr19:42776879-42776929	HNPCEpiC	eye:	n/a
3	chr19:42774330-42774380	NH-A	brain:	n/a
4	chr19:42785225-42785275	PFSK-1	brain:	n/a
5	chr19:42776879-42776929	HNPCEpiC	eye:	n/a
6	chr19:42774330-42774380	NH-A	brain:	n/a
7	chr19:42777487-42777537	SKMC	muscle:	n/a
8	chr19:42778755-42778805	PFSK-1	brain:	n/a
9	chr19:42777626-42777676	U87	brain:	n/a
10	chr19:42788966-42789016	HNPCEpiC	eye:	n/a
11	chr19:42774803-42774853	HL-60	blood:	n/a
12	chr19:42785225-42785275	ovcar-3	ovarian:	n/a
13	chr19:42776879-42776929	MCF-7	breast:	n/a
14	chr19:42788966-42789016	U87	brain:	n/a
15	chr19:42777956-42778006	HEEpiC	esophagus:	n/a
16	chr19:42774803-42774853	HIPEpiC	eye:	n/a
17	chr19:42788966-42789016	Caco-2	colon:	n/a
18	chr19:42777956-42778006	PANC-1	pancreas:	n/a
19	chr19:42787762-42787812	NT2-D1	testis:	n/a
20	chr19:42781334-42781384	K562	blood:	n/a
21	chr19:42776879-42776929	HRE	kidney:	n/a
22	chr19:42774330-42774380	HMEC	breast:	n/a
23	chr19:42788966-42789016	SKMC	muscle:	n/a
24	chr19:42774803-42774853	BE2_C	brain:	n/a
25	chr19:42784593-42784643	NT2-D1	testis:	n/a
26	chr19:42778755-42778805	PrEC	prostate:	n/a
27	chr19:42788257-42788307	HCF	heart:	n/a
28	chr19:42788248-42788298	AG09319	gingival:	n/a
29	chr19:42781334-42781384	IMR90	lung:	fetal
30	chr19:42788966-42789016	CMK	blood:	n/a
31	chr19:42777927-42777977	Caco-2	colon:	n/a
32	chr19:42787174-42787224	GM06990	blood:	n/a
33	chr19:42778755-42778805	RPTEC	kidney:	n/a
34	chr19:42788848-42788898	GM12891	blood:	n/a
35	chr19:42787174-42787224	AG04449	skin:	fetal
36	chr19:42785225-42785275	SKMC	muscle:	n/a
37	chr19:42777927-42777977	AG09309	skin:	n/a
38	chr19:42777487-42777537	ProgFib	skin:	n/a
39	chr19:42788848-42788898	CMK	blood:	n/a
40	chr19:42788257-42788307	Hela-S3	cervix:	n/a
41	chr19:42787762-42787812	GM12878	blood:	n/a
42	chr19:42788966-42789016	AG04450	lung:	fetal
43	chr19:42778755-42778805	HL-60	blood:	n/a
44	chr19:42784593-42784643	MCF10A-Er-Src	breast:	n/a
45	chr19:42788848-42788898	HL-60	blood:	n/a
46	chr19:42784384-42784434	HRPEpiC	eye:	n/a
47	chr19:42774803-42774853	NHBE	bronchial:	n/a
48	chr19:42784493-42784543	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:42784384-42784434	H1-hESC	embryonic stem cell:	embryo
50	chr19:42781334-42781384	GM19239	blood:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42704086..42706332-chr19:42793482..42795318,2	K562	blood:
2	chr19:42784464..42785059-chr19:42806215..42807066,2	HCT-116	colon:
3	chr19:42719792..42722067-chr19:42782556..42784868,3	MCF-7	breast:
4	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
5	chr19:42785237..42787439-chr19:42898347..42900741,2	K562	blood:
6	chr19:42636828..42637661-chr19:42794793..42795501,2	MCF-7	breast:
7	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
8	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
9	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
10	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
11	chr19:42750067..42750945-chr19:42783006..42783636,2	K562	blood:
12	chr19:42612405..42613325-chr19:42794536..42795840,5	MCF-7	breast:
13	chr19:42775700..42778314-chr19:42814238..42816528,2	K562	blood:
14	chr19:42578746..42580250-chr19:42784655..42786734,2	K562	blood:
15	chr19:42783597..42784516-chr4:169552208..169552881,2	HCT-116	colon:
16	chr15:90808838..90809345-chr19:42785251..42785922,2	Hela-S3	cervix:
17	chr19:42637330..42637861-chr19:42783717..42784569,2	MCF-7	breast:
18	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
19	chr12:120729494..120731830-chr19:42774117..42775700,2	MCF-7	breast:
20	chr19:42720002..42723178-chr19:42782377..42785942,3	MCF-7	breast:
21	chr19:42774007..42775893-chr19:42829806..42832465,2	K562	blood:
22	chr12:49524528..49525157-chr19:42787936..42788663,3	Hela-S3	cervix:
23	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
24	chr19:42784111..42786546-chr19:42805337..42807099,2	K562	blood:
25	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
26	chr19:42785607..42786328-chr6:138149604..138150291,2	MCF-7	breast:
27	chr19:42792606..42794185-chr5:2751901..2753503,2	MCF-7	breast:
28	chr19:42748926..42749498-chr19:42794812..42795673,2	MCF-7	breast:
29	chr19:42753011..42753994-chr19:42784711..42785693,2	K562	blood:
30	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
31	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
32	chr19:42750436..42751367-chr19:42794842..42795672,4	MCF-7	breast:
33	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
34	chr19:42795173..42796087-chr19:42804031..42804541,2	K562	blood:
35	chr19:42792212..42794667-chr19:42800851..42802759,2	MCF-7	breast:
36	chr19:42773801..42775756-chr19:42804416..42807088,2	K562	blood:
37	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
38	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
39	chr19:42794845..42795462-chr19:42937891..42938420,2	MCF-7	breast:
40	chr19:42784279..42785802-chr19:42816583..42819051,2	MCF-7	breast:
41	chr19:42595218..42597830-chr19:42795165..42796711,2	K562	blood:
42	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
43	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
44	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:

No data

Variant related genes	Relation type
CIC	TF binding region
CIC	CpG island
ENSG00000129116	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000160932	chromatin interactions
ENSG00000028277	chromatin interactions
ENSG00000170561	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000204957	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000105732	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000105429	chromatin interactions
ENSG00000167619	chromatin interactions
ENSG00000186493	chromatin interactions
ENSG00000167625	chromatin interactions
ENSG00000268643	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12979577	chr19:42773862-42773863	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs544729225	chr19:42773880-42773881	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs559835357	chr19:42773887-42773888	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs527353305	chr19:42773900-42773901	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs57759523	chr19:42773945-42773946	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs567105549	chr19:42773950-42773951	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs200523166	chr19:42773962-42773963	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs77509885	chr19:42773977-42773978	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs550985613	chr19:42773978-42773979	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs376695095	chr19:42774029-42774030	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs540018277	chr19:42774037-42774038	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs569622653	chr19:42774073-42774074	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs558356099	chr19:42774096-42774097	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs551146323	chr19:42774146-42774147	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs73932879	chr19:42774189-42774190	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555775820	chr19:42774190-42774191	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs576776535	chr19:42774202-42774203	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs573942363	chr19:42774231-42774232	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs544529507	chr19:42774281-42774282	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs373874437	chr19:42774361-42774362	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs556162039	chr19:42774384-42774385	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs369330019	chr19:42774388-42774389	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs544820986	chr19:42774461-42774462	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs369751206	chr19:42774467-42774468	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs185512166	chr19:42774574-42774575	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs117063918	chr19:42774605-42774606	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs78134005	chr19:42774652-42774653	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs190187068	chr19:42774670-42774671	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs373121422	chr19:42774675-42774676	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs374495536	chr19:42774792-42774793	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs555999206	chr19:42774818-42774819	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs531194820	chr19:42774827-42774828	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs551286820	chr19:42774841-42774842	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs75352285	chr19:42774883-42774884	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs533624530	chr19:42774901-42774902	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs552005110	chr19:42774943-42774944	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs567064864	chr19:42774947-42774948	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs534852169	chr19:42774966-42774967	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs540334699	chr19:42774995-42774996	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs76242237	chr19:42775014-42775015	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs142146125	chr19:42775015-42775016	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs151170696	chr19:42775032-42775033	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs537873397	chr19:42775033-42775034	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs181805176	chr19:42775038-42775039	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs35370116	chr19:42775056-42775057	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs553157741	chr19:42775071-42775072	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs35595857	chr19:42775125-42775126	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs370386281	chr19:42775220-42775221	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs36059145	chr19:42775245-42775246	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs577527836	chr19:42775267-42775268	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	7 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:2390 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42771800-42774200	Active TSS	NHDF-Ad	bronchial
2	chr19:42771800-42775400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:42772000-42774000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:42772000-42774000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:42772000-42774000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:42772000-42774000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:42772000-42774000	Active TSS	Esophagus	oesophagus
8	chr19:42772000-42774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:42772000-42774200	Active TSS	Left Ventricle	heart
10	chr19:42772000-42774400	Active TSS	Lung	lung
11	chr19:42772000-42774400	Active TSS	Ovary	ovary
12	chr19:42772000-42774400	Active TSS	HSMMtube	muscle
13	chr19:42772000-42774800	Active TSS	Right Atrium	heart
14	chr19:42772000-42775200	Active TSS	Psoas Muscle	Psoas
15	chr19:42772000-42775400	Active TSS	Aorta	Aorta
16	chr19:42772200-42774000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:42772200-42774000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:42772200-42774000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:42772200-42774000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:42772200-42774000	Active TSS	Primary T cells from cord blood	blood
21	chr19:42772200-42774000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr19:42772200-42774000	Active TSS	Brain Angular Gyrus	brain
23	chr19:42772200-42774000	Active TSS	Brain Anterior Caudate	brain
24	chr19:42772200-42774000	Active TSS	Brain Hippocampus Middle	brain
25	chr19:42772200-42774000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:42772200-42774000	Active TSS	Brain Substantia Nigra	brain
27	chr19:42772200-42774000	Active TSS	Colon Smooth Muscle	Colon
28	chr19:42772200-42774000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:42772200-42774200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:42772200-42774200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:42772200-42774200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr19:42772200-42774200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:42772200-42774200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr19:42772200-42774200	Active TSS	NHLF	lung
35	chr19:42772200-42774400	Active TSS	K562	blood
36	chr19:42772200-42774800	Active TSS	Gastric	stomach
37	chr19:42772200-42775200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:42772200-42775200	Active TSS	Fetal Kidney	kidney
39	chr19:42772400-42774000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr19:42772400-42774000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:42772400-42774000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:42772400-42774000	Active TSS	Colonic Mucosa	Colon
43	chr19:42772400-42774000	Active TSS	Duodenum Mucosa	Duodenum
44	chr19:42772400-42774000	Active TSS	Fetal Intestine Small	intestine
45	chr19:42772400-42774000	Active TSS	Right Ventricle	heart
46	chr19:42772400-42774000	Active TSS	Stomach Smooth Muscle	stomach
47	chr19:42772400-42774000	Active TSS	Thymus	Thymus
48	chr19:42772400-42774000	Active TSS	GM12878-XiMat	blood
49	chr19:42772400-42774000	Active TSS	HMEC	breast
50	chr19:42772400-42774000	Active TSS	NHEK	skin

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