Variant report

Variant	esv1836944
Chromosome Location	chr2:20423867-20425165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:629)
CpG islands
(count:489)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr2:20424409-20424534	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:20425034-20425769	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	chr2:20424356-20424863	GM12878	blood:	n/a	chr2:20424671-20424684 chr2:20424655-20424668 chr2:20424428-20424441
8	BCLAF1	chr2:20423600-20424199	GM12878	blood:	n/a	n/a
9	BCLAF1	chr2:20424993-20425399	GM12878	blood:	n/a	chr2:20425064-20425072
10	BHLHE40	chr2:20424340-20424715	HepG2	liver:	n/a	chr2:20424665-20424681
11	BHLHE40	chr2:20424450-20424565	K562	blood:	n/a	n/a
12	BHLHE40	chr2:20425072-20425392	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:20422908-20424005	GM12878	blood:	n/a	chr2:20423349-20423365 chr2:20423396-20423412
14	BHLHE40	chr2:20423652-20423964	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:20424408-20424680	GM12878	blood:	n/a	n/a
16	CBX3	chr2:20425068-20425319	K562	blood:	n/a	n/a
17	CCNT2	chr2:20425040-20425390	K562	blood:	n/a	n/a
18	CCNT2	chr2:20424451-20424825	K562	blood:	n/a	chr2:20424472-20424481
19	CCNT2	chr2:20424020-20424202	K562	blood:	n/a	n/a
20	CEBPD	chr2:20423805-20424242	HepG2	liver:	n/a	n/a
21	CEBPD	chr2:20424453-20425498	HepG2	liver:	n/a	n/a
22	CEBPD	chr2:20424965-20425323	HepG2	liver:	n/a	n/a
23	CHD1	chr2:20423486-20423929	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr2:20424503-20424505	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr2:20423683-20423914	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr2:20424324-20425364	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr2:20424762-20424777	HepG2	liver:	n/a	n/a
28	CHD2	chr2:20425007-20425562	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr2:20424958-20425421	A549	lung:	n/a	n/a
30	CREB1	chr2:20424317-20424939	A549	lung:	n/a	n/a
31	CREB1	chr2:20423769-20424211	A549	lung:	n/a	n/a
32	CTBP2	chr2:20424350-20424800	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:20425140-20425290	GM12872	blood:	n/a	n/a
34	CTCF	chr2:20425096-20425388	GM10266	blood:	n/a	chr2:20425315-20425325
35	CTCF	chr2:20425123-20425373	MCF-7	breast:	n/a	chr2:20425315-20425325
36	CTCF	chr2:20424964-20425517	MCF-7	breast:	n/a	chr2:20425315-20425325
37	CTCF	chr2:20424300-20424450	GM12873	blood:	n/a	n/a
38	CTCF	chr2:20425160-20425310	GM12874	blood:	n/a	n/a
39	CTCF	chr2:20425120-20425270	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:20425160-20425310	K562	blood:	n/a	n/a
41	CTCF	chr2:20425140-20425290	HAc	cerebellar:	n/a	n/a
42	CTCF	chr2:20425083-20425383	GM19239	blood:	n/a	chr2:20425315-20425325
43	CTCF	chr2:20424300-20424450	GM06990	blood:	n/a	n/a
44	CTCF	chr2:20424968-20425402	A549	lung:	n/a	chr2:20425315-20425325
45	CTCF	chr2:20425082-20425424	MCF-7	breast:	n/a	chr2:20425315-20425325
46	CTCF	chr2:20425098-20425305	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr2:20425160-20425310	AG10803	skin:	n/a	n/a
48	CTCF	chr2:20425160-20425310	GM06990	blood:	n/a	n/a
49	CTCF	chr2:20425140-20425290	HEK293	kidney:	n/a	n/a
50	CTCF	chr2:20425160-20425310	HRPEpiC	eye:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20424975-20425025	ECC-1	luminal epithelium:	n/a
2	chr2:20424975-20425025	ECC-1	luminal epithelium:	n/a
3	chr2:20424423-20424473	IMR90	lung:	fetal
4	chr2:20424804-20424854	Hepatocyte	liver:	n/a
5	chr2:20423846-20423896	BE2_C	brain:	n/a
6	chr2:20424975-20425025	HEK293	kidney:	embryo
7	chr2:20424423-20424473	NH-A	brain:	n/a
8	chr2:20424326-20424376	Hela-S3	cervix:	n/a
9	chr2:20424975-20425025	BJ	skin:	n/a
10	chr2:20424989-20425039	NHDF-neo	bronchial:	n/a
11	chr2:20424984-20425034	HRE	kidney:	n/a
12	chr2:20424423-20424473	MCF10A-Er-Src	breast:	n/a
13	chr2:20424423-20424473	BE2_C	brain:	n/a
14	chr2:20423846-20423896	K562	blood:	n/a
15	chr2:20425000-20425050	SAEC	small airway:	n/a
16	chr2:20424975-20425025	NT2-D1	testis:	n/a
17	chr2:20424326-20424376	NB4	blood:	n/a
18	chr2:20424804-20424854	Jurkat	blood:	n/a
19	chr2:20424423-20424473	HCPEpiC	choroid plexus:	n/a
20	chr2:20423846-20423896	AG09309	skin:	n/a
21	chr2:20424975-20425025	GM06990	blood:	n/a
22	chr2:20424975-20425025	AG10803	skin:	n/a
23	chr2:20424804-20424854	HNPCEpiC	eye:	n/a
24	chr2:20424989-20425039	ovcar-3	ovarian:	n/a
25	chr2:20424326-20424376	T-47D	breast:	n/a
26	chr2:20424326-20424376	HRCEpiC	kidney:	n/a
27	chr2:20424804-20424854	AoSMC	blood vessel:	n/a
28	chr2:20424989-20425039	Jurkat	blood:	n/a
29	chr2:20425000-20425050	PANC-1	pancreas:	n/a
30	chr2:20424326-20424376	BJ	skin:	n/a
31	chr2:20424804-20424854	GM19239	blood:	n/a
32	chr2:20424984-20425034	LNCaP	prostate:	n/a
33	chr2:20424984-20425034	T-47D	breast:	n/a
34	chr2:20423846-20423896	U87	brain:	n/a
35	chr2:20423846-20423896	SK-N-SH	brain:	n/a
36	chr2:20425000-20425050	U87	brain:	n/a
37	chr2:20424423-20424473	T-47D	breast:	n/a
38	chr2:20424989-20425039	AG09309	skin:	n/a
39	chr2:20424804-20424854	ProgFib	skin:	n/a
40	chr2:20424984-20425034	ECC-1	luminal epithelium:	n/a
41	chr2:20423846-20423896	HAEpiC	amniotic membrane:	n/a
42	chr2:20425000-20425050	LNCaP	prostate:	n/a
43	chr2:20425000-20425050	GM12892	blood:	n/a
44	chr2:20424804-20424854	NHDF-neo	bronchial:	n/a
45	chr2:20423846-20423896	MCF-7	breast:	n/a
46	chr2:20424975-20425025	AG04449	skin:	fetal
47	chr2:20424989-20425039	AG09319	gingival:	n/a
48	chr2:20424423-20424473	HepG2	liver:	n/a
49	chr2:20425000-20425050	HCT-116	colon:	n/a
50	chr2:20424989-20425039	GM12891	blood:	n/a

(count:10 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 31 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568766343	chr2:20423868-20423869	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	6 gene(s)	Overlapped CNVs	n/a
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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

Variant related diseases (count:75)

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

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

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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