Variant report

Variant	esv3398925
Chromosome Location	chr2:20423871-20426119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:724)
CpG islands
(count:1040)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:724 , 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	ATF2	chr2:20425005-20425452	GM12878	blood:	n/a	n/a
2	ATF3	chr2:20425043-20425479	A549	lung:	n/a	n/a
3	BACH1	chr2:20425034-20425769	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:20424409-20424534	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr2:20422836-20423892	A549	lung:	n/a	chr2:20423173-20423182 chr2:20423256-20423265 chr2:20423168-20423181
6	BCL3	chr2:20424576-20425814	A549	lung:	n/a	chr2:20424952-20424965 chr2:20425487-20425500 chr2:20424671-20424684 chr2:20424655-20424668 chr2:20425064-20425072
7	BCLAF1	chr2:20424993-20425399	GM12878	blood:	n/a	chr2:20425064-20425072
8	BCLAF1	chr2:20424356-20424863	GM12878	blood:	n/a	chr2:20424671-20424684 chr2:20424655-20424668 chr2:20424428-20424441
9	BCLAF1	chr2:20423600-20424199	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:20425072-20425392	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:20424408-20424680	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:20423652-20423964	HepG2	liver:	n/a	n/a
13	BHLHE40	chr2:20424340-20424715	HepG2	liver:	n/a	chr2:20424665-20424681
14	BHLHE40	chr2:20422908-20424005	GM12878	blood:	n/a	chr2:20423349-20423365 chr2:20423396-20423412
15	BHLHE40	chr2:20424450-20424565	K562	blood:	n/a	n/a
16	BRCA1	chr2:20425175-20425272	HepG2	liver:	n/a	n/a
17	CBX3	chr2:20425068-20425319	K562	blood:	n/a	n/a
18	CCNT2	chr2:20424020-20424202	K562	blood:	n/a	n/a
19	CCNT2	chr2:20425040-20425390	K562	blood:	n/a	n/a
20	CCNT2	chr2:20424451-20424825	K562	blood:	n/a	chr2:20424472-20424481
21	CEBPB	chr2:20425186-20425304	Hela-S3	cervix:	n/a	n/a
22	CEBPD	chr2:20423805-20424242	HepG2	liver:	n/a	n/a
23	CEBPD	chr2:20424453-20425498	HepG2	liver:	n/a	n/a
24	CEBPD	chr2:20424965-20425323	HepG2	liver:	n/a	n/a
25	CHD1	chr2:20423486-20423929	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr2:20424503-20424505	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr2:20424324-20425364	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr2:20425193-20425491	HepG2	liver:	n/a	n/a
29	CHD2	chr2:20425007-20425562	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr2:20423683-20423914	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr2:20424762-20424777	HepG2	liver:	n/a	n/a
32	CREB1	chr2:20423769-20424211	A549	lung:	n/a	n/a
33	CREB1	chr2:20424958-20425421	A549	lung:	n/a	n/a
34	CREB1	chr2:20424317-20424939	A549	lung:	n/a	n/a
35	CTBP2	chr2:20424350-20424800	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:20425078-20425404	GM19238	blood:	n/a	chr2:20425315-20425325
37	CTCF	chr2:20425160-20425310	HAc	cerebellar:	n/a	n/a
38	CTCF	chr2:20425560-20425710	GM12867	blood:	n/a	n/a
39	CTCF	chr2:20425123-20425334	GM20000	blood:	n/a	chr2:20425315-20425325
40	CTCF	chr2:20425108-20425396	Fibrobl	skin:	n/a	chr2:20425315-20425325
41	CTCF	chr2:20426020-20426170	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr2:20425160-20425310	GM12874	blood:	n/a	n/a
43	CTCF	chr2:20425140-20425290	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr2:20425180-20425330	HCPEpiC	choroid plexus:	n/a	chr2:20425315-20425325
45	CTCF	chr2:20424716-20424744	GM13976	blood:	n/a	n/a
46	CTCF	chr2:20425081-20425380	GM19240	blood:	n/a	chr2:20425315-20425325
47	CTCF	chr2:20425160-20425310	AG10803	skin:	n/a	n/a
48	CTCF	chr2:20425059-20425294	T-47D	breast:	n/a	n/a
49	CTCF	chr2:20425022-20425356	T-47D	breast:	n/a	chr2:20425315-20425325
50	CTCF	chr2:20425004-20425703	GM12878	blood:	n/a	chr2:20425315-20425325

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20425340-20425390	U87	brain:	n/a
2	chr2:20425310-20425360	HUVEC	blood vessel:	n/a
3	chr2:20424984-20425034	HRCEpiC	kidney:	n/a
4	chr2:20425340-20425390	U87	brain:	n/a
5	chr2:20425310-20425360	HUVEC	blood vessel:	n/a
6	chr2:20424984-20425034	HRCEpiC	kidney:	n/a
7	chr2:20424326-20424376	NHDF-neo	bronchial:	n/a
8	chr2:20425340-20425390	Hela-S3	cervix:	n/a
9	chr2:20425343-20425393	AoSMC	blood vessel:	n/a
10	chr2:20425649-20425699	NT2-D1	testis:	n/a
11	chr2:20424989-20425039	A549	lung:	n/a
12	chr2:20425246-20425296	HCT-116	colon:	n/a
13	chr2:20425680-20425730	HMEC	breast:	n/a
14	chr2:20425324-20425374	AG09309	skin:	n/a
15	chr2:20425981-20426031	Hela-S3	cervix:	n/a
16	chr2:20425343-20425393	SAEC	small airway:	n/a
17	chr2:20425395-20425445	T-47D	breast:	n/a
18	chr2:20425310-20425360	ProgFib	skin:	n/a
19	chr2:20424989-20425039	BE2_C	brain:	n/a
20	chr2:20425395-20425445	AG09309	skin:	n/a
21	chr2:20424423-20424473	NT2-D1	testis:	n/a
22	chr2:20424326-20424376	HEEpiC	esophagus:	n/a
23	chr2:20424975-20425025	NHBE	bronchial:	n/a
24	chr2:20425340-20425390	A549	lung:	n/a
25	chr2:20424984-20425034	NHDF-neo	bronchial:	n/a
26	chr2:20424804-20424854	HNPCEpiC	eye:	n/a
27	chr2:20424984-20425034	Jurkat	blood:	n/a
28	chr2:20424975-20425025	HMEC	breast:	n/a
29	chr2:20425340-20425390	Jurkat	blood:	n/a
30	chr2:20424989-20425039	HNPCEpiC	eye:	n/a
31	chr2:20425340-20425390	HCM	heart:	n/a
32	chr2:20425310-20425360	A549	lung:	n/a
33	chr2:20425680-20425730	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:20425000-20425050	HRPEpiC	eye:	n/a
35	chr2:20425680-20425730	NHDF-neo	bronchial:	n/a
36	chr2:20425343-20425393	HNPCEpiC	eye:	n/a
37	chr2:20424423-20424473	AG09319	gingival:	n/a
38	chr2:20425324-20425374	HCT-116	colon:	n/a
39	chr2:20424423-20424473	HNPCEpiC	eye:	n/a
40	chr2:20425680-20425730	SK-N-MC	brain:	n/a
41	chr2:20425310-20425360	SKMC	muscle:	n/a
42	chr2:20424423-20424473	Hepatocyte	liver:	n/a
43	chr2:20423846-20423896	ECC-1	luminal epithelium:	n/a
44	chr2:20425680-20425730	HNPCEpiC	eye:	n/a
45	chr2:20425981-20426031	NT2-D1	testis:	n/a
46	chr2:20424989-20425039	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:20424975-20425025	HEEpiC	esophagus:	n/a
48	chr2:20424989-20425039	GM06990	blood:	n/a
49	chr2:20425395-20425445	HCPEpiC	choroid plexus:	n/a
50	chr2:20424423-20424473	HL-60	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20425705..20426396-chr2:20447809..20448700,2	MCF-7	breast:
2	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:
3	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
4	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:
5	chr2:20306351..20307044-chr2:20424834..20425592,2	MCF-7	breast:
6	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
7	chr2:20423460..20425374-chr2:20445845..20448782,3	MCF-7	breast:
8	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
9	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:
10	chr2:20421499..20423791-chr2:20425335..20427623,2	K562	blood:
11	chr2:20352822..20355874-chr2:20423290..20424865,3	MCF-7	breast:
12	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
13	chr2:20425935..20426603-chr2:20441699..20442616,3	MCF-7	breast:

No data

Variant related genes	Relation type
SDC1	TF binding region
SDC1	CpG island
ENSG00000234378	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000115884	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000238735	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000213729	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530212985	chr2:20423908-20423909	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs138986173	chr2:20424062-20424063	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs553762358	chr2:20424117-20424118	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs558315715	chr2:20424129-20424130	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs539127054	chr2:20424146-20424147	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs556209930	chr2:20424217-20424218	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs576187526	chr2:20424256-20424257	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs376014122	chr2:20424319-20424320	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs541623153	chr2:20424353-20424354	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs561690119	chr2:20424359-20424360	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs114815037	chr2:20424364-20424365	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs192308917	chr2:20424448-20424449	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs183676529	chr2:20424466-20424467	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs59231157	chr2:20424573-20424574	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11544860	chr2:20424655-20424656	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs552422717	chr2:20424680-20424681	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs562977189	chr2:20424711-20424712	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs531987384	chr2:20424745-20424746	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs548790795	chr2:20424809-20424810	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs568778824	chr2:20424867-20424868	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs527942237	chr2:20424879-20424880	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs368994947	chr2:20424884-20424885	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs371758635	chr2:20424885-20424886	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs375946315	chr2:20424886-20424887	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs188732013	chr2:20424892-20424893	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs373499791	chr2:20424944-20424945	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs3771226	chr2:20424990-20424991	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs148081676	chr2:20425120-20425121	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs192854002	chr2:20425144-20425145	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs556033476	chr2:20425154-20425155	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs569405033	chr2:20425189-20425190	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs535280458	chr2:20425194-20425195	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs183387881	chr2:20425199-20425200	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs369723590	chr2:20425200-20425201	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs374468241	chr2:20425246-20425247	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs552151824	chr2:20425261-20425262	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs572033446	chr2:20425320-20425321	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs540889535	chr2:20425344-20425345	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs558014553	chr2:20425396-20425397	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs187095699	chr2:20425424-20425425	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs62109733	chr2:20425461-20425462	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs10206812	chr2:20425495-20425496	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs531797286	chr2:20425498-20425499	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs10183906	chr2:20425509-20425510	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs367562669	chr2:20425542-20425543	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs2881927	chr2:20425545-20425546	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117782855	chr2:20425570-20425571	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs547803355	chr2:20425575-20425576	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs571121877	chr2:20425579-20425580	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs532831751	chr2:20425603-20425604	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20421800-20424400	Enhancers	Fetal Brain Male	brain
2	chr2:20422000-20425200	Active TSS	Esophagus	oesophagus
3	chr2:20422200-20425200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:20422600-20424000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:20422600-20424200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:20422600-20425600	Active TSS	Fetal Brain Female	brain
7	chr2:20422600-20425800	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:20422800-20424600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr2:20422800-20424800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:20422800-20425400	Active TSS	Brain Angular Gyrus	brain
11	chr2:20422800-20425400	Active TSS	A549	lung
12	chr2:20422800-20425400	Active TSS	HMEC	breast
13	chr2:20422800-20425600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:20422800-20425600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:20422800-20425600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:20422800-20426000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:20423000-20424000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr2:20423000-20424600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:20423000-20425000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr2:20423000-20425200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:20423000-20425200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr2:20423000-20425200	Active TSS	Right Ventricle	heart
23	chr2:20423000-20425400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:20423000-20425400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:20423000-20425400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:20423000-20425400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:20423000-20425400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:20423000-20425400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:20423000-20425400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:20423000-20425400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr2:20423000-20425400	Weak transcription	Fetal Heart	heart
32	chr2:20423000-20425400	Active TSS	Fetal Intestine Small	intestine
33	chr2:20423000-20425400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:20423000-20425400	Active TSS	Fetal Lung	lung
35	chr2:20423000-20425400	Active TSS	Ovary	ovary
36	chr2:20423000-20425400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:20423000-20425400	Active TSS	NHDF-Ad	bronchial
38	chr2:20423000-20425600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:20423000-20425600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:20423000-20425600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:20423000-20425600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:20423000-20425600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:20423000-20425600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:20423000-20425600	Active TSS	Colon Smooth Muscle	Colon
45	chr2:20423000-20425600	Active TSS	Hela-S3	cervix
46	chr2:20423000-20425800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:20423000-20425800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:20423000-20425800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr2:20423000-20425800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:20423200-20424000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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