Variant report

Variant	esv3421903
Chromosome Location	chr3:142839312-142842010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:578)
CpG islands
(count:488)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:142841443-142842980	GM12878	blood:	n/a	n/a
2	ATF2	chr3:142841288-142842913	GM12878	blood:	n/a	n/a
3	BCL11A	chr3:142841532-142841759	GM12878	blood:	n/a	n/a
4	BCL11A	chr3:142841427-142841764	GM12878	blood:	n/a	n/a
5	BCLAF1	chr3:142839701-142840519	GM12878	blood:	n/a	n/a
6	BCLAF1	chr3:142841375-142842934	GM12878	blood:	n/a	chr3:142842423-142842432 chr3:142842634-142842643
7	BCLAF1	chr3:142841778-142842887	GM12878	blood:	n/a	chr3:142842423-142842432 chr3:142842634-142842643
8	BCLAF1	chr3:142839612-142840135	GM12878	blood:	n/a	chr3:142839630-142839643 chr3:142839627-142839636 chr3:142839624-142839633
9	BHLHE40	chr3:142840218-142840449	K562	blood:	n/a	n/a
10	BHLHE40	chr3:142841995-142842010	K562	blood:	n/a	n/a
11	BHLHE40	chr3:142839766-142840539	GM12878	blood:	n/a	n/a
12	BRCA1	chr3:142839321-142839412	GM12878	blood:	n/a	n/a
13	BRCA1	chr3:142839963-142839982	GM12878	blood:	n/a	n/a
14	CBX3	chr3:142840042-142840914	K562	blood:	n/a	n/a
15	CBX3	chr3:142840160-142840831	K562	blood:	n/a	n/a
16	CCNT2	chr3:142837807-142840892	K562	blood:	n/a	chr3:142837856-142837865
17	CCNT2	chr3:142841525-142841834	K562	blood:	n/a	n/a
18	CHD1	chr3:142841372-142841745	GM12878	blood:	n/a	n/a
19	CHD1	chr3:142840377-142840530	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr3:142838568-142839462	GM12878	blood:	n/a	n/a
21	CHD1	chr3:142839675-142840019	GM12878	blood:	n/a	n/a
22	CHD2	chr3:142840064-142840423	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr3:142839790-142840529	GM12878	blood:	n/a	n/a
24	CHD2	chr3:142839725-142839806	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr3:142838769-142840635	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:142839860-142840010	GM12878	blood:	n/a	n/a
27	CTCF	chr3:142840140-142840290	GM12868	blood:	n/a	n/a
28	CTCF	chr3:142840280-142840430	GM12873	blood:	n/a	n/a
29	CTCF	chr3:142839840-142839990	NHLF	lung:	n/a	n/a
30	CTCF	chr3:142839860-142840010	HAc	cerebellar:	n/a	n/a
31	CTCF	chr3:142840204-142840452	K562	blood:	n/a	n/a
32	CTCF	chr3:142839840-142839990	RPTEC	kidney:	n/a	n/a
33	CTCF	chr3:142840260-142840410	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr3:142839800-142839950	AG09319	gingival:	n/a	n/a
35	CTCF	chr3:142839840-142839990	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr3:142839300-142839450	GM12872	blood:	n/a	n/a
37	CTCF	chr3:142840673-142840679	GM12891	blood:	n/a	n/a
38	CTCF	chr3:142839920-142840070	HCM	heart:	n/a	n/a
39	CTCF	chr3:142839200-142839350	GM12870	blood:	n/a	n/a
40	CTCF	chr3:142839757-142840119	K562	blood:	n/a	n/a
41	CTCF	chr3:142839228-142839460	GM12892	blood:	n/a	n/a
42	CTCF	chr3:142839180-142839330	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr3:142839260-142839410	GM12864	blood:	n/a	n/a
44	CTCF	chr3:142839820-142839970	GM12868	blood:	n/a	n/a
45	CTCF	chr3:142839822-142840061	GM13977	blood:	n/a	n/a
46	CTCF	chr3:142840260-142840410	BJ	skin:	n/a	n/a
47	CTCF	chr3:142840240-142840390	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr3:142839768-142840670	GM12891	blood:	n/a	n/a
49	CTCF	chr3:142840240-142840390	GM12871	blood:	n/a	n/a
50	CTCF	chr3:142839180-142839330	HPAF	blood vessel:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142840837-142840887	K562	blood:	n/a
2	chr3:142839903-142839953	HRCEpiC	kidney:	n/a
3	chr3:142839837-142839887	AG09309	skin:	n/a
4	chr3:142839903-142839953	HRE	kidney:	n/a
5	chr3:142840837-142840887	RPTEC	kidney:	n/a
6	chr3:142841719-142841769	NT2-D1	testis:	n/a
7	chr3:142839578-142839628	SK-N-SH_RA	brain:	n/a
8	chr3:142839578-142839628	GM12892	blood:	n/a
9	chr3:142839837-142839887	GM19239	blood:	n/a
10	chr3:142840129-142840179	Hela-S3	cervix:	n/a
11	chr3:142840240-142840290	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:142840129-142840179	AG09309	skin:	n/a
13	chr3:142839991-142840041	Hela-S3	cervix:	n/a
14	chr3:142839837-142839887	HCM	heart:	n/a
15	chr3:142840837-142840887	MCF10A-Er-Src	breast:	n/a
16	chr3:142839578-142839628	GM06990	blood:	n/a
17	chr3:142839578-142839628	IMR90	lung:	fetal
18	chr3:142840240-142840290	GM12878	blood:	n/a
19	chr3:142839578-142839628	HepG2	liver:	n/a
20	chr3:142839903-142839953	NHBE	bronchial:	n/a
21	chr3:142840837-142840887	NB4	blood:	n/a
22	chr3:142839903-142839953	MCF10A-Er-Src	breast:	n/a
23	chr3:142839903-142839953	GM12878	blood:	n/a
24	chr3:142839991-142840041	U87	brain:	n/a
25	chr3:142841719-142841769	PFSK-1	brain:	n/a
26	chr3:142839903-142839953	BJ	skin:	n/a
27	chr3:142840240-142840290	HCPEpiC	choroid plexus:	n/a
28	chr3:142841719-142841769	GM19239	blood:	n/a
29	chr3:142839991-142840041	Hepatocyte	liver:	n/a
30	chr3:142839837-142839887	HMEC	breast:	n/a
31	chr3:142839991-142840041	SK-N-SH	brain:	n/a
32	chr3:142839578-142839628	PANC-1	pancreas:	n/a
33	chr3:142839903-142839953	U87	brain:	n/a
34	chr3:142841719-142841769	HEEpiC	esophagus:	n/a
35	chr3:142840837-142840887	GM12892	blood:	n/a
36	chr3:142840129-142840179	NB4	blood:	n/a
37	chr3:142840837-142840887	HCM	heart:	n/a
38	chr3:142840837-142840887	T-47D	breast:	n/a
39	chr3:142839578-142839628	A549	lung:	n/a
40	chr3:142839903-142839953	MCF-7	breast:	n/a
41	chr3:142839903-142839953	GM12891	blood:	n/a
42	chr3:142839991-142840041	Caco-2	colon:	n/a
43	chr3:142839903-142839953	AG09309	skin:	n/a
44	chr3:142839578-142839628	LNCaP	prostate:	n/a
45	chr3:142840240-142840290	Hela-S3	cervix:	n/a
46	chr3:142839837-142839887	PFSK-1	brain:	n/a
47	chr3:142839903-142839953	HIPEpiC	eye:	n/a
48	chr3:142840837-142840887	HepG2	liver:	n/a
49	chr3:142839991-142840041	HCM	heart:	n/a
50	chr3:142839991-142840041	HepG2	liver:	n/a

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

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

No data

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

Extended variants
information (count: 119 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	rs151299816	chr3:142840153-142840154	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
29	rs368136453	chr3:142840189-142840190	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	4 gene(s)	Overlapped CNVs	n/a
30	rs146718778	chr3:142840207-142840208	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs376240735	chr3:142840276-142840277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs72551382	chr3:142840292-142840293	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113424624	chr3:142840297-142840298	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs576611141	chr3:142840305-142840306	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs142329074	chr3:142840342-142840343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs370733799	chr3:142840351-142840352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs374062697	chr3:142840368-142840369	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs367649595	chr3:142840372-142840373	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150194588	chr3:142840396-142840397	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543629849	chr3:142840405-142840406	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs138622067	chr3:142840408-142840409	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs149320699	chr3:142840421-142840422	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs76774286	chr3:142840432-142840433	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs371391853	chr3:142840484-142840485	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142680851	chr3:142840518-142840519	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs113533522	chr3:142840519-142840520	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs200061252	chr3:142840524-142840525	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs374441757	chr3:142840535-142840536	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs559583916	chr3:142840554-142840555	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs148028120	chr3:142840558-142840559	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 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:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:142837600-142840200	Active TSS	Right Atrium	heart
15	chr3:142837600-142840200	Active TSS	K562	blood
16	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
19	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
20	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
22	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
23	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
25	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:142837600-142840600	Active TSS	NHLF	lung
27	chr3:142837600-142840600	Active TSS	Osteobl	bone
28	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
29	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:142837600-142841000	Active TSS	HSMM	muscle
31	chr3:142837600-142841200	Active TSS	Brain Angular Gyrus	brain
32	chr3:142837800-142839400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:142837800-142839400	Active TSS	Esophagus	oesophagus
34	chr3:142837800-142839400	Active TSS	Gastric	stomach
35	chr3:142837800-142839400	Active TSS	Left Ventricle	heart
36	chr3:142837800-142839400	Active TSS	Lung	lung
37	chr3:142837800-142839400	Bivalent/Poised TSS	A549	lung
38	chr3:142837800-142839600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr3:142837800-142839600	Active TSS	Rectal Smooth Muscle	rectum
40	chr3:142837800-142839600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr3:142837800-142839800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:142837800-142839800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:142837800-142839800	Active TSS	NH-A	brain
44	chr3:142837800-142840000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:142837800-142840000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:142837800-142840000	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr3:142837800-142840200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:142837800-142840200	Active TSS	Ovary	ovary
49	chr3:142837800-142840200	Active TSS	Small Intestine	intestine
50	chr3:142837800-142840200	Active TSS	Spleen	Spleen

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