Variant report

Variant	rs35657303
Chromosome Location	chr4:3075890-3075891
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr4:3075636-3076538	GM12878	blood:	n/a	n/a
2	MXI1	chr4:3075132-3076606	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:3075416-3075920	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr4:3075066-3078105	GM15510	blood:	n/a	n/a
5	POLR2A	chr4:3075339-3076734	MCF-7	breast:	n/a	n/a
6	MXI1	chr4:3074910-3076677	SK-N-SH	brain:	n/a	n/a
7	CREB1	chr4:3075473-3076678	K562	blood:	n/a	n/a
8	MAZ	chr4:3075228-3076619	K562	blood:	n/a	n/a
9	POLR2A	chr4:3075327-3080089	GM18505	blood:	n/a	n/a
10	SP1	chr4:3075387-3076643	HCT-116	colon:	n/a	chr4:3075447-3075457 chr4:3076267-3076276 chr4:3076265-3076276 chr4:3075447-3075456
11	MAZ	chr4:3075379-3076478	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr4:3075091-3076165	K562	blood:	n/a	chr4:3075182-3075189
13	CREB1	chr4:3075492-3076737	GM12878	blood:	n/a	n/a
14	E2F6	chr4:3075463-3075934	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:3075449-3075935	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:3075376-3076650	NB4	blood:	n/a	n/a
17	MYC	chr4:3075635-3076361	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:3075462-3078579	GM19099	blood:	n/a	n/a
19	POLR2A	chr4:3075141-3077429	Raji	blood:	n/a	n/a
20	CREB1	chr4:3075819-3076585	A549	lung:	n/a	n/a
21	CREB1	chr4:3075850-3076620	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr4:3075381-3075941	ECC-1	luminal epithelium:	n/a	n/a
23	PBX3	chr4:3075491-3076640	SK-N-SH	brain:	n/a	chr4:3076317-3076326
24	IRF1	chr4:3075305-3076594	K562	blood:	n/a	n/a
25	MYC	chr4:3075507-3076602	NB4	blood:	n/a	n/a
26	POLR2A	chr4:3074789-3076732	HepG2	liver:	n/a	n/a
27	MAZ	chr4:3075704-3076589	Hela-S3	cervix:	n/a	n/a
28	REST	chr4:3075180-3077521	H1-neurons	neurons:	n/a	chr4:3076480-3076494 chr4:3075371-3075381 chr4:3076482-3076492
29	MAX	chr4:3075341-3076430	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr4:3075177-3076595	GM12878	blood:	n/a	n/a
31	MAX	chr4:3074956-3076696	HepG2	liver:	n/a	n/a
32	MAZ	chr4:3075236-3076708	IMR90	lung:	n/a	n/a
33	CHD2	chr4:3075519-3076592	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr4:3075364-3075911	MCF-7	breast:	n/a	n/a
35	MAX	chr4:3075506-3076584	NB4	blood:	n/a	n/a
36	ZNF143	chr4:3075593-3076629	GM12878	blood:	n/a	chr4:3075708-3075718 chr4:3076516-3076534 chr4:3076258-3076268
37	NRF1	chr4:3075216-3076612	SK-N-SH	brain:	n/a	chr4:3076369-3076380 chr4:3075707-3075721 chr4:3076349-3076360
38	CREB1	chr4:3075207-3076762	HepG2	liver:	n/a	n/a
39	EGR1	chr4:3075832-3076628	HCT-116	colon:	n/a	chr4:3076402-3076412 chr4:3076255-3076268 chr4:3076340-3076354
40	POLR2A	chr4:3075485-3078087	GM18526	blood:	n/a	n/a
41	MAX	chr4:3075374-3076541	K562	blood:	n/a	n/a
42	SP1	chr4:3075852-3076566	A549	lung:	n/a	chr4:3076267-3076276 chr4:3076265-3076276
43	EGR1	chr4:3075859-3076551	K562	blood:	n/a	chr4:3076402-3076412 chr4:3076255-3076268 chr4:3076340-3076354
44	PAX5	chr4:3075871-3076649	GM12892	blood:	n/a	n/a
45	MAX	chr4:3075225-3075949	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr4:3075307-3075949	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr4:3075409-3078093	GM18951	blood:	n/a	n/a
48	SP1	chr4:3075888-3076515	HepG2	liver:	n/a	chr4:3076267-3076276 chr4:3076265-3076276
49	E2F6	chr4:3075356-3076475	K562	blood:	n/a	chr4:3075397-3075407 chr4:3076258-3076268
50	POLR2A	chr4:3075404-3076708	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3075888-3075938	SK-N-SH_RA	brain:	n/a
2	chr4:3075888-3075938	HCT-116	colon:	n/a
3	chr4:3075888-3075938	HAEpiC	amniotic membrane:	n/a
4	chr4:3075888-3075938	SKMC	muscle:	n/a
5	chr4:3075888-3075938	AoSMC	blood vessel:	n/a
6	chr4:3075888-3075938	Hepatocyte	liver:	n/a
7	chr4:3075888-3075938	HCM	heart:	n/a
8	chr4:3075888-3075938	ECC-1	luminal epithelium:	n/a
9	chr4:3075888-3075938	BE2_C	brain:	n/a
10	chr4:3075888-3075938	HRE	kidney:	n/a
11	chr4:3075888-3075938	PrEC	prostate:	n/a
12	chr4:3075888-3075938	GM12878	blood:	n/a
13	chr4:3075888-3075938	SK-N-MC	brain:	n/a
14	chr4:3075888-3075938	U87	brain:	n/a
15	chr4:3075888-3075938	NH-A	brain:	n/a
16	chr4:3075888-3075938	ovcar-3	ovarian:	n/a
17	chr4:3075888-3075938	HRPEpiC	eye:	n/a
18	chr4:3075888-3075938	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:3075888-3075938	HL-60	blood:	n/a
20	chr4:3075888-3075938	HIPEpiC	eye:	n/a
21	chr4:3075888-3075938	AG09319	gingival:	n/a
22	chr4:3075888-3075938	PFSK-1	brain:	n/a
23	chr4:3075888-3075938	Hela-S3	cervix:	n/a
24	chr4:3075888-3075938	HCPEpiC	choroid plexus:	n/a
25	chr4:3075888-3075938	AG04450	lung:	fetal
26	chr4:3075888-3075938	HNPCEpiC	eye:	n/a
27	chr4:3075888-3075938	HRCEpiC	kidney:	n/a
28	chr4:3075888-3075938	T-47D	breast:	n/a
29	chr4:3075888-3075938	K562	blood:	n/a
30	chr4:3075888-3075938	SAEC	small airway:	n/a
31	chr4:3075888-3075938	HCF	heart:	n/a
32	chr4:3075888-3075938	HEK293	kidney:	embryo
33	chr4:3075888-3075938	NT2-D1	testis:	n/a
34	chr4:3075888-3075938	HMEC	breast:	n/a
35	chr4:3075888-3075938	NHBE	bronchial:	n/a
36	chr4:3075888-3075938	NHDF-neo	bronchial:	n/a
37	chr4:3075888-3075938	GM12891	blood:	n/a
38	chr4:3075888-3075938	HEEpiC	esophagus:	n/a
39	chr4:3075888-3075938	MCF10A-Er-Src	breast:	n/a
40	chr4:3075888-3075938	AG10803	skin:	n/a
41	chr4:3075888-3075938	BJ	skin:	n/a
42	chr4:3075888-3075938	AG04449	skin:	fetal
43	chr4:3075888-3075938	GM06990	blood:	n/a
44	chr4:3075888-3075938	ProgFib	skin:	n/a
45	chr4:3075888-3075938	AG09309	skin:	n/a
46	chr4:3075888-3075938	GM12892	blood:	n/a
47	chr4:3075888-3075938	LNCaP	prostate:	n/a
48	chr4:3075888-3075938	IMR90	lung:	fetal
49	chr4:3075888-3075938	MCF-7	breast:	n/a
50	chr4:3075888-3075938	Jurkat	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3074016..3078502-chr4:3111809..3117809,7	MCF-7	breast:
2	chr4:3075638..3077191-chr4:3246487..3249347,2	MCF-7	breast:
3	chr17:16556241..16557924-chr4:3075466..3077603,2	MCF-7	breast:
4	chr4:3074885..3077461-chr4:3292207..3294882,2	MCF-7	breast:
5	chr4:2964356..2966158-chr4:3074837..3077632,2	K562	blood:
6	chr4:2262471..2264332-chr4:3074788..3077577,2	MCF-7	breast:
7	chr4:2468745..2470693-chr4:3075535..3077781,3	K562	blood:

No data

Variant related genes	Relation type
HTT	TF binding region
HTT	CpG island
ENSG00000063978	Chromatin interaction
ENSG00000159788	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000264765	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000123933	Chromatin interaction
ENSG00000188981	Chromatin interaction
ENSG00000197566	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv3326369	chr4:3074679-3077527	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3406168	chr4:3075379-3078127	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3435763	chr4:3075704-3077902	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3074800-3076400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:3074800-3077600	Active TSS	Fetal Brain Female	brain
3	chr4:3074800-3078600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:3075000-3076400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:3075000-3076600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3075000-3077000	Active TSS	Osteobl	bone
7	chr4:3075000-3077400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:3075000-3077400	Active TSS	HSMM	muscle
9	chr4:3075000-3077600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr4:3075000-3077600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:3075000-3077600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:3075000-3077600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:3075000-3077600	Active TSS	Brain Germinal Matrix	brain
14	chr4:3075000-3077800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:3075000-3078400	Active TSS	A549	lung
16	chr4:3075200-3077000	Active TSS	Primary T cells from cord blood	blood
17	chr4:3075200-3077000	Active TSS	Brain Substantia Nigra	brain
18	chr4:3075200-3077200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr4:3075200-3077400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr4:3075200-3077400	Active TSS	Colonic Mucosa	Colon
21	chr4:3075200-3077400	Active TSS	Colon Smooth Muscle	Colon
22	chr4:3075200-3077400	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:3075200-3077600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:3075200-3077600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:3075200-3077600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:3075200-3077600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:3075200-3077600	Active TSS	Brain Cingulate Gyrus	brain
28	chr4:3075200-3077600	Active TSS	Duodenum Mucosa	Duodenum
29	chr4:3075200-3077600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr4:3075200-3077600	Active TSS	Fetal Kidney	kidney
31	chr4:3075200-3077600	Active TSS	Hela-S3	cervix
32	chr4:3075200-3077600	Active TSS	HUVEC	blood vessel
33	chr4:3075200-3077600	Active TSS	NHEK	skin
34	chr4:3075200-3077800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:3075200-3077800	Active TSS	Aorta	Aorta
36	chr4:3075200-3077800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:3075200-3078000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:3075200-3078600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:3075400-3077000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr4:3075400-3077000	Active TSS	Brain Hippocampus Middle	brain
41	chr4:3075400-3077000	Weak transcription	Fetal Heart	heart
42	chr4:3075400-3077000	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr4:3075400-3077200	Active TSS	Stomach Mucosa	stomach
44	chr4:3075400-3077400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:3075400-3077400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:3075400-3077400	Active TSS	Fetal Lung	lung
47	chr4:3075400-3077400	Active TSS	Fetal Stomach	stomach
48	chr4:3075400-3077400	Active TSS	Gastric	stomach
49	chr4:3075400-3077400	Active TSS	Pancreas	Pancrea
50	chr4:3075400-3077400	Active TSS	Small Intestine	intestine

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