Variant report

Variant	esv3438597
Chromosome Location	chr3:142838687-142841235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:686)
CpG islands
(count:673)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr3:142838819-142839310	GM12878	blood:	n/a	chr3:142838855-142838868 chr3:142838912-142838925 chr3:142838860-142838869 chr3:142838918-142838927 chr3:142838915-142838924 chr3:142838919-142838932 chr3:142838918-142838931
2	BCLAF1	chr3:142839612-142840135	GM12878	blood:	n/a	chr3:142839630-142839643 chr3:142839627-142839636 chr3:142839624-142839633
3	BCLAF1	chr3:142839701-142840519	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:142838717-142838727	K562	blood:	n/a	n/a
5	BHLHE40	chr3:142839766-142840539	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:142838100-142838745	GM12878	blood:	n/a	chr3:142838696-142838712 chr3:142838595-142838611 chr3:142838699-142838715 chr3:142838693-142838709 chr3:142838695-142838711
7	BHLHE40	chr3:142840218-142840449	K562	blood:	n/a	n/a
8	BHLHE40	chr3:142839155-142839200	K562	blood:	n/a	n/a
9	BRCA1	chr3:142839321-142839412	GM12878	blood:	n/a	n/a
10	BRCA1	chr3:142839963-142839982	GM12878	blood:	n/a	n/a
11	CBX3	chr3:142840042-142840914	K562	blood:	n/a	n/a
12	CBX3	chr3:142840160-142840831	K562	blood:	n/a	n/a
13	CCNT2	chr3:142837807-142840892	K562	blood:	n/a	chr3:142837856-142837865
14	CHD1	chr3:142840377-142840530	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr3:142838568-142839462	GM12878	blood:	n/a	n/a
16	CHD1	chr3:142839675-142840019	GM12878	blood:	n/a	n/a
17	CHD1	chr3:142839083-142839283	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr3:142839725-142839806	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr3:142839790-142840529	GM12878	blood:	n/a	n/a
20	CHD2	chr3:142837662-142839049	K562	blood:	n/a	n/a
21	CHD2	chr3:142840064-142840423	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr3:142837571-142838746	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr3:142837728-142838778	GM12878	blood:	n/a	n/a
24	CREB1	chr3:142838368-142838774	A549	lung:	n/a	n/a
25	CREB1	chr3:142837809-142838776	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr3:142837717-142839100	GM12878	blood:	n/a	n/a
27	CTBP2	chr3:142838769-142840635	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr3:142839746-142840515	GM19240	blood:	n/a	n/a
29	CTCF	chr3:142840280-142840430	GM12865	blood:	n/a	n/a
30	CTCF	chr3:142840161-142840166	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr3:142839860-142840010	HEK293	kidney:	n/a	n/a
32	CTCF	chr3:142840535-142840537	Fibrobl	skin:	n/a	n/a
33	CTCF	chr3:142839840-142839990	GM12865	blood:	n/a	n/a
34	CTCF	chr3:142839820-142839970	AG09309	skin:	n/a	n/a
35	CTCF	chr3:142839180-142839330	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr3:142840317-142840392	LNCaP	prostate:	n/a	n/a
37	CTCF	chr3:142839140-142839290	AG09319	gingival:	n/a	n/a
38	CTCF	chr3:142839712-142840083	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr3:142839840-142839990	AG10803	skin:	n/a	n/a
40	CTCF	chr3:142839840-142839990	GM12870	blood:	n/a	n/a
41	CTCF	chr3:142839820-142839970	AG09319	gingival:	n/a	n/a
42	CTCF	chr3:142839757-142840119	K562	blood:	n/a	n/a
43	CTCF	chr3:142840391-142840434	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:142839800-142839950	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr3:142839220-142839370	GM12868	blood:	n/a	n/a
46	CTCF	chr3:142839140-142839290	GM12872	blood:	n/a	n/a
47	CTCF	chr3:142839780-142839930	HRE	kidney:	n/a	n/a
48	CTCF	chr3:142839800-142840484	GM10266	blood:	n/a	n/a
49	CTCF	chr3:142839200-142839350	GM12870	blood:	n/a	n/a
50	CTCF	chr3:142839880-142840030	HMEC	breast:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142840129-142840179	HCPEpiC	choroid plexus:	n/a
2	chr3:142839837-142839887	AG04449	skin:	fetal
3	chr3:142840129-142840179	HCPEpiC	choroid plexus:	n/a
4	chr3:142839837-142839887	AG04449	skin:	fetal
5	chr3:142839578-142839628	HRPEpiC	eye:	n/a
6	chr3:142838682-142838732	SK-N-SH	brain:	n/a
7	chr3:142839991-142840041	MCF-7	breast:	n/a
8	chr3:142838847-142838897	HL-60	blood:	n/a
9	chr3:142839991-142840041	AG09319	gingival:	n/a
10	chr3:142839578-142839628	PrEC	prostate:	n/a
11	chr3:142838847-142838897	NB4	blood:	n/a
12	chr3:142838938-142838988	HMEC	breast:	n/a
13	chr3:142840129-142840179	HRPEpiC	eye:	n/a
14	chr3:142840240-142840290	HRPEpiC	eye:	n/a
15	chr3:142839903-142839953	NH-A	brain:	n/a
16	chr3:142838847-142838897	H1-hESC	embryonic stem cell:	embryo
17	chr3:142840837-142840887	GM12878	blood:	n/a
18	chr3:142840837-142840887	SK-N-SH_RA	brain:	n/a
19	chr3:142839022-142839072	HL-60	blood:	n/a
20	chr3:142839837-142839887	AG10803	skin:	n/a
21	chr3:142838847-142838897	HCPEpiC	choroid plexus:	n/a
22	chr3:142838938-142838988	Hela-S3	cervix:	n/a
23	chr3:142839578-142839628	HAEpiC	amniotic membrane:	n/a
24	chr3:142839837-142839887	Hela-S3	cervix:	n/a
25	chr3:142838682-142838732	HEK293	kidney:	embryo
26	chr3:142838847-142838897	PrEC	prostate:	n/a
27	chr3:142838847-142838897	SKMC	muscle:	n/a
28	chr3:142839903-142839953	PrEC	prostate:	n/a
29	chr3:142838938-142838988	HEEpiC	esophagus:	n/a
30	chr3:142838938-142838988	LNCaP	prostate:	n/a
31	chr3:142839991-142840041	ovcar-3	ovarian:	n/a
32	chr3:142839903-142839953	Caco-2	colon:	n/a
33	chr3:142840837-142840887	AG10803	skin:	n/a
34	chr3:142840129-142840179	PANC-1	pancreas:	n/a
35	chr3:142839837-142839887	K562	blood:	n/a
36	chr3:142839837-142839887	AG09319	gingival:	n/a
37	chr3:142839578-142839628	GM19239	blood:	n/a
38	chr3:142839022-142839072	AoSMC	blood vessel:	n/a
39	chr3:142839991-142840041	HEK293	kidney:	embryo
40	chr3:142839903-142839953	HEK293	kidney:	embryo
41	chr3:142839903-142839953	Hepatocyte	liver:	n/a
42	chr3:142839837-142839887	PrEC	prostate:	n/a
43	chr3:142839991-142840041	SK-N-SH	brain:	n/a
44	chr3:142839578-142839628	H1-hESC	embryonic stem cell:	embryo
45	chr3:142838938-142838988	GM06990	blood:	n/a
46	chr3:142838682-142838732	HAEpiC	amniotic membrane:	n/a
47	chr3:142839578-142839628	HIPEpiC	eye:	n/a
48	chr3:142839022-142839072	SK-N-SH_RA	brain:	n/a
49	chr3:142838847-142838897	HCM	heart:	n/a
50	chr3:142839837-142839887	HL-60	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142719801..142721977-chr3:142838395..142840175,2	K562	blood:
2	chr3:142777135..142778996-chr3:142838578..142841035,2	K562	blood:
3	chr3:142839696..142842108-chr3:143048440..143050143,2	K562	blood:
4	chr3:142795942..142798929-chr3:142838470..142841083,3	K562	blood:
5	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:
6	chr3:142546469..142548561-chr3:142838535..142840408,2	K562	blood:
7	chr3:142772025..142774338-chr3:142838383..142839930,2	K562	blood:
8	chr3:142295506..142297981-chr3:142837321..142839389,2	K562	blood:
9	chr3:142839303..142841374-chr3:143036089..143037614,2	K562	blood:
10	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
11	chr3:142839097..142841882-chr3:143060810..143062990,2	K562	blood:
12	chr3:142839800..142841734-chr3:142873166..142874850,2	K562	blood:
13	chr3:142729466..142731298-chr3:142840071..142842956,2	K562	blood:
14	chr3:142839497..142841574-chr3:143081300..143083347,2	K562	blood:
15	chr3:142760861..142763721-chr3:142838517..142840129,2	K562	blood:
16	chr3:142729466..142732055-chr3:142838748..142841571,2	K562	blood:
17	chr3:142838518..142840970-chr3:143064617..143066302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241679	TF binding region
ENSG00000241679	CpG island
ENSG00000211483	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000163714	chromatin interactions
ENSG00000240012	chromatin interactions
ENSG00000268129	chromatin interactions
ENSG00000240950	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184039954	chr3:142838693-142838694	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs189213801	chr3:142838695-142838696	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs541807093	chr3:142838701-142838702	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs560772476	chr3:142838752-142838753	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs11549674	chr3:142838754-142838755	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs563576463	chr3:142838768-142838769	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs568740028	chr3:142838782-142838783	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs564738752	chr3:142838874-142838875	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs536170130	chr3:142838883-142838884	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs531787524	chr3:142838885-142838886	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs72551380	chr3:142838916-142838917	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs554507318	chr3:142838951-142838952	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs113832205	chr3:142838986-142838987	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs529256196	chr3:142839018-142839019	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577218923	chr3:142839028-142839029	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs566449706	chr3:142839093-142839094	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs534058472	chr3:142839103-142839104	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs552171316	chr3:142839118-142839119	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs72551381	chr3:142839213-142839214	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs537634478	chr3:142839223-142839224	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs6764683	chr3:142839278-142839279	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574540292	chr3:142839288-142839289	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs192083367	chr3:142839300-142839301	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs1473870	chr3:142839313-142839314	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs553770911	chr3:142839339-142839340	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs2280083	chr3:142839344-142839345	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546502160	chr3:142839351-142839352	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs564619129	chr3:142839377-142839378	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs576616742	chr3:142839443-142839444	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs4149494	chr3:142839546-142839547	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561848242	chr3:142839603-142839604	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs529317966	chr3:142839632-142839633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs547403396	chr3:142839641-142839642	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs559731019	chr3:142839672-142839673	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs545988820	chr3:142839681-142839682	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs552485505	chr3:142839704-142839705	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs201667583	chr3:142839723-142839724	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs531203365	chr3:142839766-142839767	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs200923812	chr3:142839805-142839806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs148799946	chr3:142839877-142839878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs374335239	chr3:142839918-142839919	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs185111962	chr3:142839977-142839978	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs530880972	chr3:142840004-142840005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs112556632	chr3:142840008-142840009	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs111826049	chr3:142840063-142840064	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs551875025	chr3:142840078-142840079	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs370818111	chr3:142840094-142840095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs535580758	chr3:142840109-142840110	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs111802003	chr3:142840133-142840134	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs142479140	chr3:142840139-142840140	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr3:142837400-142838800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:142837400-142839000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:142837600-142839000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:142837600-142840200	Active TSS	Right Atrium	heart
19	chr3:142837600-142840200	Active TSS	K562	blood
20	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
23	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
24	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
26	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
27	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
29	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr3:142837600-142840600	Active TSS	NHLF	lung
31	chr3:142837600-142840600	Active TSS	Osteobl	bone
32	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
33	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:142837600-142841000	Active TSS	HSMM	muscle
35	chr3:142837600-142841200	Active TSS	Brain Angular Gyrus	brain
36	chr3:142837800-142838800	Active TSS	Colonic Mucosa	Colon
37	chr3:142837800-142839000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:142837800-142839000	Active TSS	Right Ventricle	heart
39	chr3:142837800-142839000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
40	chr3:142837800-142839200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr3:142837800-142839200	Active TSS	HMEC	breast
42	chr3:142837800-142839400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr3:142837800-142839400	Active TSS	Esophagus	oesophagus
44	chr3:142837800-142839400	Active TSS	Gastric	stomach
45	chr3:142837800-142839400	Active TSS	Left Ventricle	heart
46	chr3:142837800-142839400	Active TSS	Lung	lung
47	chr3:142837800-142839400	Bivalent/Poised TSS	A549	lung
48	chr3:142837800-142839600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr3:142837800-142839600	Active TSS	Rectal Smooth Muscle	rectum
50	chr3:142837800-142839600	Active TSS	Sigmoid Colon	Sigmoid Colon

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