Variant report

Variant	esv3445442
Chromosome Location	chr3:195162488-195165036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:718)
CpG islands
(count:732)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:195163626-195164357	K562	blood:	n/a	chr3:195163720-195163735
2	ARID3A	chr3:195163792-195164532	HepG2	liver:	n/a	n/a
3	ATF1	chr3:195163564-195164159	K562	blood:	n/a	n/a
4	ATF3	chr3:195163790-195164294	K562	blood:	n/a	chr3:195164056-195164076
5	ATF3	chr3:195163482-195163848	K562	blood:	n/a	n/a
6	ATF3	chr3:195163876-195164169	K562	blood:	n/a	chr3:195164056-195164076
7	ATF3	chr3:195163851-195164184	H1-hESC	embryonic stem cell:	n/a	chr3:195164056-195164076
8	BACH1	chr3:195162577-195163631	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:195162536-195162734	K562	blood:	n/a	n/a
10	BCLAF1	chr3:195163336-195163867	GM12878	blood:	n/a	chr3:195163851-195163864
11	BCLAF1	chr3:195163217-195163769	GM12878	blood:	n/a	chr3:195163275-195163284 chr3:195163222-195163235
12	BHLHE40	chr3:195163559-195164307	K562	blood:	n/a	chr3:195163820-195163836 chr3:195163812-195163828
13	BHLHE40	chr3:195163410-195164532	HepG2	liver:	n/a	chr3:195163820-195163836 chr3:195163812-195163828
14	BHLHE40	chr3:195163313-195163314	K562	blood:	n/a	n/a
15	BHLHE40	chr3:195163235-195164588	GM12878	blood:	n/a	chr3:195163820-195163836 chr3:195163812-195163828
16	BRCA1	chr3:195163429-195164079	GM12878	blood:	n/a	n/a
17	BRCA1	chr3:195163486-195163561	HepG2	liver:	n/a	n/a
18	BRCA1	chr3:195163515-195164290	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr3:195163476-195164298	K562	blood:	n/a	n/a
20	CCNT2	chr3:195162687-195164243	K562	blood:	n/a	chr3:195163107-195163116 chr3:195163855-195163864
21	CEBPB	chr3:195163957-195164509	GM12878	blood:	n/a	n/a
22	CEBPB	chr3:195163824-195164055	H1-hESC	embryonic stem cell:	n/a	chr3:195163922-195163930
23	CEBPB	chr3:195163862-195164057	K562	blood:	n/a	chr3:195163922-195163930
24	CEBPB	chr3:195163852-195164060	HepG2	liver:	n/a	chr3:195163922-195163930
25	CEBPB	chr3:195163372-195164072	Hela-S3	cervix:	n/a	chr3:195163922-195163930
26	CEBPD	chr3:195163544-195163870	HepG2	liver:	n/a	n/a
27	CEBPD	chr3:195163900-195164224	HepG2	liver:	n/a	n/a
28	CEBPZ	chr3:195163765-195164098	HepG2	liver:	n/a	n/a
29	CHD1	chr3:195161737-195165110	IMR90	lung:	n/a	chr3:195163403-195163413
30	CHD1	chr3:195161666-195163806	GM12878	blood:	n/a	chr3:195163403-195163413
31	CHD1	chr3:195163472-195163644	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr3:195162595-195163184	GM12878	blood:	n/a	n/a
33	CHD2	chr3:195163667-195164210	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr3:195162593-195164308	Hela-S3	cervix:	n/a	chr3:195163403-195163413
35	CHD2	chr3:195163483-195164222	GM12878	blood:	n/a	n/a
36	CHD2	chr3:195163577-195164185	K562	blood:	n/a	n/a
37	CHD2	chr3:195162890-195163406	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr3:195163583-195164163	HepG2	liver:	n/a	n/a
39	CREB1	chr3:195163775-195164084	A549	lung:	n/a	n/a
40	CREB1	chr3:195163416-195164291	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr3:195162593-195164311	HepG2	liver:	n/a	n/a
42	CREB1	chr3:195163384-195164264	K562	blood:	n/a	n/a
43	CREB1	chr3:195163262-195164250	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr3:195163036-195164319	GM12878	blood:	n/a	n/a
45	CREB1	chr3:195163477-195164170	A549	lung:	n/a	n/a
46	CREB1	chr3:195163230-195164309	K562	blood:	n/a	n/a
47	CREB1	chr3:195163471-195164187	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr3:195162920-195163070	GM12878	blood:	n/a	n/a
49	CTCF	chr3:195163080-195163230	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr3:195162600-195162750	AG09309	skin:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195163530-195163580	MCF10A-Er-Src	breast:	n/a
2	chr3:195164931-195164981	BE2_C	brain:	n/a
3	chr3:195164118-195164168	HCM	heart:	n/a
4	chr3:195162912-195162962	Hepatocyte	liver:	n/a
5	chr3:195164931-195164981	NT2-D1	testis:	n/a
6	chr3:195163920-195163970	HCT-116	colon:	n/a
7	chr3:195162912-195162962	HNPCEpiC	eye:	n/a
8	chr3:195164580-195164630	SK-N-MC	brain:	n/a
9	chr3:195163826-195163876	HRCEpiC	kidney:	n/a
10	chr3:195163530-195163580	HL-60	blood:	n/a
11	chr3:195163937-195163987	RPTEC	kidney:	n/a
12	chr3:195162912-195162962	K562	blood:	n/a
13	chr3:195163052-195163102	SK-N-MC	brain:	n/a
14	chr3:195163860-195163910	HCF	heart:	n/a
15	chr3:195163937-195163987	HEK293	kidney:	embryo
16	chr3:195164580-195164630	NT2-D1	testis:	n/a
17	chr3:195163530-195163580	T-47D	breast:	n/a
18	chr3:195164580-195164630	ECC-1	luminal epithelium:	n/a
19	chr3:195164931-195164981	AG10803	skin:	n/a
20	chr3:195164060-195164110	NH-A	brain:	n/a
21	chr3:195162912-195162962	NHBE	bronchial:	n/a
22	chr3:195164072-195164122	LNCaP	prostate:	n/a
23	chr3:195164118-195164168	HAEpiC	amniotic membrane:	n/a
24	chr3:195162912-195162962	AG09319	gingival:	n/a
25	chr3:195164060-195164110	H1-hESC	embryonic stem cell:	embryo
26	chr3:195163530-195163580	H1-hESC	embryonic stem cell:	embryo
27	chr3:195163860-195163910	MCF10A-Er-Src	breast:	n/a
28	chr3:195164118-195164168	SK-N-SH	brain:	n/a
29	chr3:195164072-195164122	AG04450	lung:	fetal
30	chr3:195163530-195163580	HEEpiC	esophagus:	n/a
31	chr3:195163937-195163987	AG04450	lung:	fetal
32	chr3:195162912-195162962	AG09309	skin:	n/a
33	chr3:195164580-195164630	HIPEpiC	eye:	n/a
34	chr3:195163052-195163102	BE2_C	brain:	n/a
35	chr3:195164118-195164168	SK-N-MC	brain:	n/a
36	chr3:195162912-195162962	HCM	heart:	n/a
37	chr3:195164060-195164110	U87	brain:	n/a
38	chr3:195163826-195163876	SAEC	small airway:	n/a
39	chr3:195163920-195163970	HRE	kidney:	n/a
40	chr3:195163860-195163910	AoSMC	blood vessel:	n/a
41	chr3:195162912-195162962	MCF10A-Er-Src	breast:	n/a
42	chr3:195164060-195164110	HRE	kidney:	n/a
43	chr3:195164072-195164122	HUVEC	blood vessel:	n/a
44	chr3:195164580-195164630	T-47D	breast:	n/a
45	chr3:195163052-195163102	SK-N-SH	brain:	n/a
46	chr3:195164931-195164981	Caco-2	colon:	n/a
47	chr3:195164931-195164981	HIPEpiC	eye:	n/a
48	chr3:195162912-195162962	HAEpiC	amniotic membrane:	n/a
49	chr3:195163530-195163580	AoSMC	blood vessel:	n/a
50	chr3:195162912-195162962	HEK293	kidney:	embryo

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195162578..195166480-chr3:195268710..195271525,3	K562	blood:
2	chr3:195081898..195084336-chr3:195160220..195162508,2	K562	blood:
3	chr3:194991144..194993841-chr3:195162528..195164078,2	MCF-7	breast:
4	chr3:195164614..195167496-chr3:195169106..195172382,4	K562	blood:
5	chr3:195163220..195164101-chr8:141521936..141522636,2	Hela-S3	cervix:
6	chr1:150207004..150207822-chr3:195163174..195163686,2	Hela-S3	cervix:
7	chr3:194997826..195001793-chr3:195162641..195164811,3	MCF-7	breast:
8	chr3:195164614..195167502-chr3:195169044..195171295,4	K562	blood:
9	chr3:195163193..195163881-chrX:48814855..48815707,2	Hela-S3	cervix:
10	chr19:2475868..2476569-chr3:195163223..195164130,2	Hela-S3	cervix:
11	chr2:97481962..97482603-chr3:195163221..195164183,2	Hela-S3	cervix:
12	chr1:46215931..46216495-chr3:195163206..195163755,2	Hela-S3	cervix:
13	chr19:48824592..48825377-chr3:195163259..195163954,2	Hela-S3	cervix:
14	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:
15	chr19:12405012..12405883-chr3:195163461..195164141,2	Hela-S3	cervix:
16	chr3:195162201..195164559-chr3:195267983..195270079,2	MCF-7	breast:
17	chr15:60690110..60690843-chr3:195163231..195163759,2	Hela-S3	cervix:
18	chr17:80415930..80416625-chr3:195163219..195164171,2	Hela-S3	cervix:
19	chr3:194353939..194355661-chr3:195162594..195164351,2	MCF-7	breast:
20	chr1:108742953..108743702-chr3:195163392..195164127,2	Hela-S3	cervix:
21	chr3:195160742..195163180-chr3:195164392..195166055,3	K562	blood:
22	chr3:194892527..194894676-chr3:195164792..195166496,2	K562	blood:
23	chr3:195159870..195162612-chr3:195162648..195164644,2	MCF-7	breast:
24	chr19:49956428..49957025-chr3:195162753..195163744,2	Hela-S3	cervix:
25	chr3:194991198..194994178-chr3:195162096..195163902,2	K562	blood:
26	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
27	chr3:195139843..195142071-chr3:195162223..195164874,2	MCF-7	breast:
28	chr3:195160703..195163180-chr3:195164139..195166055,4	K562	blood:
29	chr3:195163282..195164231-chr7:100026450..100027141,2	Hela-S3	cervix:
30	chr1:180991614..180992139-chr3:195163272..195163974,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ACAP2	TF binding region
ACAP2	CpG island
ENSG00000197857	chromatin interactions
ENSG00000105479	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000142227	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000223711	chromatin interactions
ENSG00000145014	chromatin interactions
ENSG00000114331	chromatin interactions
ENSG00000184203	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000207368	chromatin interactions
ENSG00000173950	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000161618	chromatin interactions
ENSG00000135823	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000068308	chromatin interactions
ENSG00000168763	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000085491	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541542231	chr3:195162515-195162516	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs537364823	chr3:195162556-195162557	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560142559	chr3:195162589-195162590	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs527282093	chr3:195162613-195162614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs552164364	chr3:195162626-195162627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs570763471	chr3:195162630-195162631	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs531609381	chr3:195162632-195162633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs192744027	chr3:195162701-195162702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs568146136	chr3:195162714-195162715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs546031378	chr3:195162717-195162718	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs149036859	chr3:195162745-195162746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs558869204	chr3:195162752-195162753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs559791189	chr3:195162841-195162842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs144583581	chr3:195162856-195162857	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs566105057	chr3:195162882-195162883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs138515947	chr3:195162884-195162885	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs557681871	chr3:195162902-195162903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs576347600	chr3:195163028-195163029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs543670942	chr3:195163062-195163063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs28451837	chr3:195163074-195163075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs570858589	chr3:195163081-195163082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs574152728	chr3:195163082-195163083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs541951514	chr3:195163222-195163223	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs560002804	chr3:195163233-195163234	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs534698800	chr3:195163255-195163256	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs536489773	chr3:195163261-195163262	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs556403970	chr3:195163321-195163322	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs527334110	chr3:195163333-195163334	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs35372930	chr3:195163383-195163384	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs545837856	chr3:195163427-195163428	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs564037475	chr3:195163447-195163448	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs369190208	chr3:195163496-195163497	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs531671493	chr3:195163503-195163504	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs550077624	chr3:195163517-195163518	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs568291472	chr3:195163565-195163566	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs529067443	chr3:195163600-195163601	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs56307767	chr3:195163622-195163623	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs547528691	chr3:195163642-195163643	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs566041039	chr3:195163646-195163647	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
40	rs116681503	chr3:195163690-195163691	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs36103950	chr3:195163699-195163700	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs576255760	chr3:195163706-195163707	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs551373255	chr3:195163718-195163719	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs377058960	chr3:195163723-195163724	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs112952348	chr3:195163756-195163757	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs574837159	chr3:195163768-195163769	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs537397320	chr3:195163876-195163877	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs555778401	chr3:195163897-195163898	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs1105165	chr3:195163917-195163918	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377188971	chr3:195163935-195163936	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195160200-195162600	Weak transcription	Spleen	Spleen
2	chr3:195160800-195162600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:195161000-195162600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
4	chr3:195161000-195162600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:195161000-195162800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr3:195161000-195162800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:195161200-195164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:195161200-195164200	Active TSS	GM12878-XiMat	blood
9	chr3:195161200-195164600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:195161400-195162600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr3:195161400-195162600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr3:195161400-195162600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:195161400-195163000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr3:195161400-195163200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr3:195161400-195164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:195161400-195164200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:195161400-195164200	Active TSS	K562	blood
18	chr3:195161600-195162800	Flanking Active TSS	HUVEC	blood vessel
19	chr3:195161600-195164200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:195161800-195162600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:195161800-195162600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:195161800-195162600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr3:195161800-195162600	Flanking Active TSS	Dnd41	blood
24	chr3:195161800-195162600	Flanking Active TSS	NH-A	brain
25	chr3:195161800-195162600	Flanking Active TSS	NHEK	skin
26	chr3:195161800-195162800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr3:195161800-195162800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr3:195161800-195163000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr3:195161800-195164200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:195161800-195164200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr3:195161800-195164200	Active TSS	HMEC	breast
32	chr3:195161800-195164400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:195162000-195162600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr3:195162000-195162600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr3:195162000-195162600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr3:195162000-195162600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr3:195162000-195162600	Active TSS	Fetal Brain Female	brain
38	chr3:195162000-195162600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr3:195162000-195162600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:195162000-195162600	Flanking Active TSS	Osteobl	bone
41	chr3:195162000-195162800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr3:195162000-195162800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:195162000-195162800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr3:195162000-195162800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:195162000-195162800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr3:195162000-195162800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:195162000-195162800	Flanking Active TSS	Fetal Thymus	thymus
48	chr3:195162000-195162800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:195162000-195163000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr3:195162000-195163600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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