Variant report

Variant	esv3405597
Chromosome Location	chr3:118958287-118960835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:767)
CpG islands
(count:671)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:118960307-118960621	K562	blood:	n/a	n/a
2	ARID3A	chr3:118958984-118959315	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:118959577-118960661	HepG2	liver:	n/a	n/a
4	ATF1	chr3:118960335-118960603	K562	blood:	n/a	n/a
5	ATF2	chr3:118960243-118960740	GM12878	blood:	n/a	n/a
6	ATF2	chr3:118959497-118959863	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr3:118959332-118959773	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr3:118960196-118960703	GM12878	blood:	n/a	n/a
9	BCLAF1	chr3:118959407-118959868	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:118959469-118960099	HepG2	liver:	n/a	n/a
11	BHLHE40	chr3:118960371-118960618	K562	blood:	n/a	n/a
12	BHLHE40	chr3:118959287-118960685	GM12878	blood:	n/a	n/a
13	BHLHE40	chr3:118959058-118960084	K562	blood:	n/a	n/a
14	BRCA1	chr3:118959423-118960648	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr3:118960342-118960633	K562	blood:	n/a	n/a
16	CBX3	chr3:118960256-118960644	K562	blood:	n/a	n/a
17	CBX3	chr3:118959643-118960047	K562	blood:	n/a	n/a
18	CCNT2	chr3:118959078-118959994	K562	blood:	n/a	n/a
19	CEBPB	chr3:118959219-118959971	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr3:118960296-118960659	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr3:118959447-118959912	HepG2	liver:	n/a	n/a
22	CEBPD	chr3:118959513-118959794	HepG2	liver:	n/a	n/a
23	CHD1	chr3:118959942-118960135	GM12878	blood:	n/a	n/a
24	CHD1	chr3:118959511-118959813	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr3:118958405-118960749	IMR90	lung:	n/a	chr3:118959806-118959816
26	CHD1	chr3:118958981-118959705	GM12878	blood:	n/a	n/a
27	CHD1	chr3:118958714-118959035	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr3:118959090-118959302	K562	blood:	n/a	n/a
29	CHD2	chr3:118960291-118960625	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr3:118960360-118960517	K562	blood:	n/a	n/a
31	CHD2	chr3:118959733-118959927	H1-hESC	embryonic stem cell:	n/a	chr3:118959806-118959816
32	CHD2	chr3:118959053-118959403	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr3:118959024-118959365	HepG2	liver:	n/a	n/a
34	CHD2	chr3:118959278-118960046	GM12878	blood:	n/a	chr3:118959806-118959816
35	CHD2	chr3:118959091-118960045	Hela-S3	cervix:	n/a	chr3:118959806-118959816
36	CHD2	chr3:118959578-118959802	HepG2	liver:	n/a	n/a
37	CREB1	chr3:118960328-118960653	A549	lung:	n/a	n/a
38	CREB1	chr3:118959461-118959700	A549	lung:	n/a	chr3:118959565-118959578
39	CREB1	chr3:118958811-118960115	HepG2	liver:	n/a	chr3:118959565-118959578
40	CREB1	chr3:118959362-118959803	H1-hESC	embryonic stem cell:	n/a	chr3:118959565-118959578
41	CREB1	chr3:118959259-118959993	GM12878	blood:	n/a	chr3:118959565-118959578
42	CREB1	chr3:118959267-118959978	A549	lung:	n/a	chr3:118959565-118959578
43	CTCF	chr3:118960420-118960570	GM06990	blood:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
44	CTCF	chr3:118960417-118960593	H1-hESC	embryonic stem cell:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
45	CTCF	chr3:118960440-118960590	GM12872	blood:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
46	CTCF	chr3:118960411-118960612	MCF-7	breast:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
47	CTCF	chr3:118960040-118960190	GM12872	blood:	n/a	n/a
48	CTCF	chr3:118960420-118960570	GM12868	blood:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
49	CTCF	chr3:118960380-118960632	GM10248	blood:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515
50	CTCF	chr3:118960480-118960630	GM12875	blood:	n/a	chr3:118960496-118960517 chr3:118960502-118960518 chr3:118960501-118960519 chr3:118960508-118960515

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118959468-118959518	U87	brain:	n/a
2	chr3:118959546-118959596	HCT-116	colon:	n/a
3	chr3:118959546-118959596	K562	blood:	n/a
4	chr3:118959852-118959902	ECC-1	luminal epithelium:	n/a
5	chr3:118959852-118959902	GM19239	blood:	n/a
6	chr3:118959850-118959900	K562	blood:	n/a
7	chr3:118959852-118959902	HNPCEpiC	eye:	n/a
8	chr3:118959852-118959902	HUVEC	blood vessel:	n/a
9	chr3:118960340-118960390	HEK293	kidney:	embryo
10	chr3:118959933-118959983	Caco-2	colon:	n/a
11	chr3:118958539-118958589	HUVEC	blood vessel:	n/a
12	chr3:118959928-118959978	PrEC	prostate:	n/a
13	chr3:118960340-118960390	NT2-D1	testis:	n/a
14	chr3:118959563-118959613	NH-A	brain:	n/a
15	chr3:118959850-118959900	HIPEpiC	eye:	n/a
16	chr3:118960340-118960390	NB4	blood:	n/a
17	chr3:118959933-118959983	GM19239	blood:	n/a
18	chr3:118959468-118959518	AG04450	lung:	fetal
19	chr3:118959840-118959890	GM12891	blood:	n/a
20	chr3:118959985-118960035	HEK293	kidney:	embryo
21	chr3:118959563-118959613	HL-60	blood:	n/a
22	chr3:118959985-118960035	LNCaP	prostate:	n/a
23	chr3:118959933-118959983	BE2_C	brain:	n/a
24	chr3:118959546-118959596	Hepatocyte	liver:	n/a
25	chr3:118960340-118960390	GM12892	blood:	n/a
26	chr3:118959468-118959518	ECC-1	luminal epithelium:	n/a
27	chr3:118959850-118959900	SK-N-MC	brain:	n/a
28	chr3:118959928-118959978	HCF	heart:	n/a
29	chr3:118959928-118959978	T-47D	breast:	n/a
30	chr3:118959563-118959613	Hela-S3	cervix:	n/a
31	chr3:118959468-118959518	HCM	heart:	n/a
32	chr3:118959850-118959900	HRCEpiC	kidney:	n/a
33	chr3:118959928-118959978	HCT-116	colon:	n/a
34	chr3:118959928-118959978	SKMC	muscle:	n/a
35	chr3:118958539-118958589	BJ	skin:	n/a
36	chr3:118958539-118958589	PrEC	prostate:	n/a
37	chr3:118959840-118959890	Jurkat	blood:	n/a
38	chr3:118959840-118959890	HEEpiC	esophagus:	n/a
39	chr3:118959468-118959518	HCF	heart:	n/a
40	chr3:118960340-118960390	SK-N-MC	brain:	n/a
41	chr3:118959985-118960035	HAEpiC	amniotic membrane:	n/a
42	chr3:118958539-118958589	HEK293	kidney:	embryo
43	chr3:118960340-118960390	SAEC	small airway:	n/a
44	chr3:118959850-118959900	HMEC	breast:	n/a
45	chr3:118959563-118959613	Jurkat	blood:	n/a
46	chr3:118960340-118960390	ProgFib	skin:	n/a
47	chr3:118959933-118959983	HepG2	liver:	n/a
48	chr3:118959840-118959890	SK-N-SH_RA	brain:	n/a
49	chr3:118959840-118959890	HAEpiC	amniotic membrane:	n/a
50	chr3:118959928-118959978	H1-hESC	embryonic stem cell:	embryo

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:22109314..22109945-chr3:118959315..118959846,2	NB4	blood:
2	chr3:118952753..118957545-chr3:118958102..118959880,7	K562	blood:
3	chr3:118960420..118962594-chr3:119040439..119042799,2	MCF-7	breast:
4	chr3:118943120..118945710-chr3:118958108..118960423,2	K562	blood:
5	chr17:17739891..17740473-chr3:118959481..118960131,2	HCT-116	colon:
6	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:
7	chr3:118863527..118866220-chr3:118958408..118962544,4	MCF-7	breast:
8	chr3:118957609..118959509-chr3:119217273..119218823,2	MCF-7	breast:
9	chr13:22177969..22178555-chr3:118959359..118960057,2	NB4	blood:
10	chr3:118863219..118864917-chr3:118959824..118960983,11	MCF-7	breast:
11	chr3:118603243..118603893-chr3:118960392..118961051,3	MCF-7	breast:
12	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:
13	chr3:118864376..118864922-chr3:118960063..118960873,2	K562	blood:
14	chr3:118944759..118947412-chr3:118958236..118960502,3	MCF-7	breast:
15	chr3:118948357..118951865-chr3:118958522..118961643,4	MCF-7	breast:
16	chr1:45196218..45196883-chr3:118959430..118959960,2	Hela-S3	cervix:
17	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
18	chr3:118865607..118868236-chr3:118959699..118961355,2	K562	blood:
19	chr3:118864340..118865141-chr3:118960015..118960938,2	MCF-7	breast:
20	chr3:118866560..118867342-chr3:118960209..118960801,2	MCF-7	breast:

No data

Variant related genes	Relation type
B4GALT4	TF binding region
B4GALT4	CpG island
ENSG00000165487	chromatin interactions
ENSG00000163424	chromatin interactions
ENSG00000113845	chromatin interactions
ENSG00000251012	chromatin interactions
ENSG00000144847	chromatin interactions
ENSG00000241155	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000090686	chromatin interactions
ENSG00000114638	chromatin interactions
ENSG00000072310	chromatin interactions
ENSG00000240254	chromatin interactions
ENSG00000121578	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372297221	chr3:118958317-118958318	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs114582205	chr3:118958337-118958338	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs183366097	chr3:118958361-118958362	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs143999002	chr3:118958382-118958383	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs374186697	chr3:118958516-118958517	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs532116102	chr3:118958539-118958540	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs536154079	chr3:118958574-118958575	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs145929045	chr3:118958606-118958607	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs556051325	chr3:118958609-118958610	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs7637021	chr3:118958619-118958620	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112512668	chr3:118958627-118958628	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs567535183	chr3:118958662-118958663	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs76297198	chr3:118958685-118958686	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs148800465	chr3:118958718-118958719	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs142434096	chr3:118958752-118958753	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545381113	chr3:118958763-118958764	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs557394270	chr3:118958779-118958780	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs151325748	chr3:118958784-118958785	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs542958150	chr3:118958830-118958831	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs116225534	chr3:118958842-118958843	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs7648873	chr3:118958844-118958845	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs200903474	chr3:118958845-118958846	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs78836935	chr3:118958857-118958858	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs77583007	chr3:118958859-118958860	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs397823372	chr3:118958860-118958861	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs77847511	chr3:118958879-118958880	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs79146935	chr3:118958891-118958892	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs78713668	chr3:118958892-118958893	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs73187823	chr3:118958918-118958919	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532156115	chr3:118958942-118958943	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs187853794	chr3:118958943-118958944	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs74417264	chr3:118958954-118958955	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs572846866	chr3:118959033-118959034	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs73187824	chr3:118959040-118959041	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115818385	chr3:118959049-118959050	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs549287797	chr3:118959059-118959060	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs140573668	chr3:118959069-118959070	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs561615592	chr3:118959078-118959079	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs535205599	chr3:118959083-118959084	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs146347999	chr3:118959088-118959089	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs13065844	chr3:118959176-118959177	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs13088460	chr3:118959184-118959185	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs13066155	chr3:118959199-118959200	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs13088472	chr3:118959200-118959201	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs13065863	chr3:118959207-118959208	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs199902870	chr3:118959210-118959211	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs538764373	chr3:118959226-118959227	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs557357386	chr3:118959232-118959233	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs192888262	chr3:118959242-118959243	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs13066012	chr3:118959265-118959266	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:118930200-118958400	Weak transcription	Hela-S3	cervix
3	chr3:118945800-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:118948400-118958600	Weak transcription	Colonic Mucosa	Colon
5	chr3:118949000-118958400	Weak transcription	Fetal Brain Male	brain
6	chr3:118949400-118958800	Weak transcription	Lung	lung
7	chr3:118949600-118958400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:118949600-118958600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:118949600-118958600	Weak transcription	Brain Germinal Matrix	brain
10	chr3:118949600-118958800	Weak transcription	Gastric	stomach
11	chr3:118949800-118958800	Weak transcription	Spleen	Spleen
12	chr3:118950000-118958400	Weak transcription	Fetal Brain Female	brain
13	chr3:118951600-118958800	Weak transcription	Esophagus	oesophagus
14	chr3:118952000-118958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:118952600-118958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:118952600-118958400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:118952800-118958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:118953600-118958600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:118954600-118958400	Weak transcription	Aorta	Aorta
20	chr3:118954600-118958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:118954600-118958400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:118954800-118958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:118955000-118958600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:118955000-118958600	Weak transcription	HSMMtube	muscle
25	chr3:118955800-118958600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:118956000-118958400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:118956000-118958400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:118956000-118958600	Weak transcription	Left Ventricle	heart
29	chr3:118956000-118958600	Weak transcription	Psoas Muscle	Psoas
30	chr3:118956000-118958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:118956000-118958800	Weak transcription	Pancreas	Pancrea
32	chr3:118956800-118960000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:118956800-118960000	Active TSS	A549	lung
34	chr3:118957200-118958400	Active TSS	Duodenum Mucosa	Duodenum
35	chr3:118957200-118958400	Enhancers	Dnd41	blood
36	chr3:118957200-118958600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:118957200-118958600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr3:118957200-118958600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:118957200-118958600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:118957200-118958800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:118957200-118959400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:118957200-118960200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:118957400-118958400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:118957400-118958400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:118957400-118958400	Enhancers	Thymus	Thymus
46	chr3:118957400-118959400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:118957400-118960200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:118957400-118960200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:118957400-118960200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:118957400-118960200	Active TSS	NHDF-Ad	bronchial

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