Variant report

Variant	rs530194816
Chromosome Location	chr4:8202645-8202646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8200632-8202730	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:8200369-8205269	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:8201586-8203464	HUVEC	blood vessel:	n/a	n/a
4	CEBPB	chr4:8202186-8202719	HepG2	liver:	n/a	n/a
5	RCOR1	chr4:8201768-8203775	GM12878	blood:	n/a	n/a
6	TAF1	chr4:8202187-8202728	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr4:8201798-8202660	GM12891	blood:	n/a	n/a
8	POLR2A	chr4:8200443-8205116	GM18505	blood:	n/a	n/a
9	MYC	chr4:8202456-8202660	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:8202428-8202686	K562	blood:	n/a	n/a
11	POLR2A	chr4:8201774-8204219	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:8200122-8204378	GM18526	blood:	n/a	n/a
13	STAT1	chr4:8202554-8203563	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:8200506-8204225	GM19193	blood:	n/a	n/a
15	POLR2A	chr4:8200695-8203509	HUVEC	blood vessel:	n/a	n/a
16	USF1	chr4:8202425-8202707	A549	lung:	n/a	chr4:8202573-8202584
17	POLR2A	chr4:8200565-8203402	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr4:8202427-8202675	HepG2	liver:	n/a	n/a
19	USF1	chr4:8202464-8202686	GM12878	blood:	n/a	chr4:8202573-8202584
20	RCOR1	chr4:8202550-8202733	K562	blood:	n/a	n/a
21	POLR2A	chr4:8202150-8203089	HUVEC	blood vessel:	n/a	n/a
22	CHD2	chr4:8201619-8202656	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:8201781-8202689	HepG2	liver:	n/a	n/a
24	ATF3	chr4:8202500-8202669	K562	blood:	n/a	n/a
25	MYC	chr4:8202344-8202809	HUVEC	blood vessel:	n/a	n/a
26	RUNX3	chr4:8202394-8203747	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:8201572-8203307	PFSK-1	brain:	n/a	n/a
28	RFX5	chr4:8202639-8202837	GM12878	blood:	n/a	n/a
29	USF1	chr4:8202433-8202716	H1-hESC	embryonic stem cell:	n/a	chr4:8202573-8202584
30	HMGN3	chr4:8202331-8202695	K562	blood:	n/a	n/a
31	POLR2A	chr4:8200430-8203861	HUVEC	blood vessel:	n/a	n/a
32	RFX5	chr4:8202556-8202756	HepG2	liver:	n/a	n/a
33	MAZ	chr4:8201965-8205055	GM12878	blood:	n/a	chr4:8203087-8203096
34	WRNIP1	chr4:8201617-8204724	GM12878	blood:	n/a	n/a
35	USF1	chr4:8202427-8202757	SK-N-SH_RA	brain:	n/a	chr4:8202573-8202584
36	HEY1	chr4:8202333-8202680	K562	blood:	n/a	n/a
37	USF1	chr4:8202388-8202703	A549	lung:	n/a	chr4:8202573-8202584
38	MTA3	chr4:8200020-8205097	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:8200473-8203690	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:8200278-8205230	GM12891	blood:	n/a	n/a
41	USF1	chr4:8202422-8202703	HepG2	liver:	n/a	chr4:8202573-8202584
42	RELA	chr4:8201644-8202717	GM19099	blood:	n/a	n/a
43	POLR2A	chr4:8202264-8202706	HUVEC	blood vessel:	n/a	n/a
44	USF2	chr4:8202011-8202720	HepG2	liver:	n/a	n/a
45	CHD1	chr4:8200388-8203794	GM12878	blood:	n/a	n/a
46	TBP	chr4:8201674-8203636	GM12878	blood:	n/a	n/a
47	SIN3A	chr4:8201784-8202784	GM12878	blood:	n/a	chr4:8202267-8202280 chr4:8201906-8201919 chr4:8201958-8201967
48	POLR2A	chr4:8201709-8205132	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:8202103-8202647	K562	blood:	n/a	n/a
50	POLR2A	chr4:8202331-8202657	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
2	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000163995	Chromatin interaction
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:8200000-8203200	Enhancers	Fetal Heart	heart
3	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:8200200-8203200	Flanking Active TSS	Colonic Mucosa	Colon
6	chr4:8200200-8203800	Active TSS	Rectal Smooth Muscle	rectum
7	chr4:8200200-8204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8200200-8204000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:8200400-8203000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr4:8200400-8203000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr4:8200400-8203600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr4:8200400-8203600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr4:8200400-8203600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:8200400-8204000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:8200400-8204000	Active TSS	Brain Anterior Caudate	brain
18	chr4:8200400-8204400	Flanking Active TSS	Fetal Thymus	thymus
19	chr4:8200600-8202800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr4:8200600-8202800	Flanking Active TSS	Pancreas	Pancrea
21	chr4:8200600-8202800	Enhancers	K562	blood
22	chr4:8200600-8203000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:8200600-8203000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:8200600-8203000	Flanking Active TSS	Osteobl	bone
25	chr4:8200600-8203200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:8200600-8203200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:8200600-8203200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:8200600-8203400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:8200600-8203600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:8200600-8203800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr4:8200600-8204000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:8200600-8204000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:8200600-8205200	Flanking Active TSS	Dnd41	blood
34	chr4:8200800-8202800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:8200800-8202800	Active TSS	Fetal Kidney	kidney
36	chr4:8200800-8203000	Flanking Active TSS	Fetal Stomach	stomach
37	chr4:8200800-8203000	Active TSS	Hela-S3	cervix
38	chr4:8200800-8203200	Active TSS	Brain Substantia Nigra	brain
39	chr4:8200800-8203400	Flanking Active TSS	Placenta	Placenta
40	chr4:8200800-8203800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr4:8201000-8202800	Flanking Active TSS	Lung	lung
42	chr4:8201000-8202800	Active TSS	Psoas Muscle	Psoas
43	chr4:8201000-8202800	Flanking Active TSS	Stomach Mucosa	stomach
44	chr4:8201000-8203400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:8201200-8202800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:8201200-8202800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr4:8201200-8203000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr4:8201200-8204600	Active TSS	Brain Hippocampus Middle	brain
49	chr4:8201400-8203200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:8201400-8203200	Active TSS	Brain Cingulate Gyrus	brain

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