Variant report

Variant	rs540764191
Chromosome Location	chr4:8202214-8202215
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:8202100-8202250	GM12865	blood:	n/a	n/a
2	CTCF	chr4:8202083-8202376	GM19239	blood:	n/a	n/a
3	POLR2A	chr4:8200632-8202730	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:8200369-8205269	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:8201586-8203464	HUVEC	blood vessel:	n/a	n/a
6	EBF1	chr4:8201721-8202298	GM12878	blood:	n/a	chr4:8201779-8201790
7	CEBPB	chr4:8202186-8202719	HepG2	liver:	n/a	n/a
8	PAX5	chr4:8201917-8202283	GM12878	blood:	n/a	n/a
9	RCOR1	chr4:8201768-8203775	GM12878	blood:	n/a	n/a
10	TAF1	chr4:8202187-8202728	PFSK-1	brain:	n/a	n/a
11	CTCF	chr4:8202161-8202323	K562	blood:	n/a	n/a
12	POLR2A	chr4:8201798-8202660	GM12891	blood:	n/a	n/a
13	POLR2A	chr4:8200443-8205116	GM18505	blood:	n/a	n/a
14	TAF1	chr4:8202103-8202386	GM12878	blood:	n/a	n/a
15	MAX	chr4:8201791-8202245	A549	lung:	n/a	n/a
16	CTCF	chr4:8202200-8202350	GM12872	blood:	n/a	n/a
17	POLR2A	chr4:8201774-8204219	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:8200122-8204378	GM18526	blood:	n/a	n/a
19	POLR2A	chr4:8200506-8204225	GM19193	blood:	n/a	n/a
20	CTCF	chr4:8202213-8202279	GM13977	blood:	n/a	n/a
21	POLR2A	chr4:8200695-8203509	HUVEC	blood vessel:	n/a	n/a
22	EP300	chr4:8202207-8202349	GM12878	blood:	n/a	n/a
23	EBF1	chr4:8201574-8202402	GM12878	blood:	n/a	chr4:8201779-8201790
24	POLR2A	chr4:8200565-8203402	PFSK-1	brain:	n/a	n/a
25	CTCF	chr4:8202160-8202310	GM06990	blood:	n/a	n/a
26	POLR2A	chr4:8202150-8203089	HUVEC	blood vessel:	n/a	n/a
27	MAX	chr4:8200588-8202244	A549	lung:	n/a	n/a
28	CHD2	chr4:8201619-8202656	GM12878	blood:	n/a	n/a
29	CTCF	chr4:8202140-8202290	GM12873	blood:	n/a	n/a
30	CTCF	chr4:8202161-8202346	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:8201781-8202689	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:8200354-8202631	Raji	blood:	n/a	n/a
33	TCF12	chr4:8201884-8202281	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:8201572-8203307	PFSK-1	brain:	n/a	n/a
35	PBX3	chr4:8202127-8202421	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:8201560-8202333	GM12891	blood:	n/a	n/a
37	CTCF	chr4:8202081-8202374	GM12891	blood:	n/a	n/a
38	CTCF	chr4:8202120-8202270	GM12864	blood:	n/a	n/a
39	MYC	chr4:8202061-8202226	GM12878	blood:	n/a	n/a
40	POU2F2	chr4:8201502-8202528	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:8200430-8203861	HUVEC	blood vessel:	n/a	n/a
42	FOXA1	chr4:8201966-8202363	HepG2	liver:	n/a	n/a
43	FOXA2	chr4:8202087-8202413	A549	lung:	n/a	n/a
44	MAZ	chr4:8201965-8205055	GM12878	blood:	n/a	chr4:8203087-8203096
45	FOXA1	chr4:8201998-8202441	HepG2	liver:	n/a	n/a
46	WRNIP1	chr4:8201617-8204724	GM12878	blood:	n/a	n/a
47	CTCF	chr4:8202140-8202290	GM12878	blood:	n/a	n/a
48	CTCF	chr4:8202140-8202290	GM12871	blood:	n/a	n/a
49	MTA3	chr4:8200020-8205097	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:8200473-8203690	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
2	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
3	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:
4	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:

No data

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction
ENSG00000163995	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:8200000-8203200	Enhancers	Fetal Heart	heart
4	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:8200200-8203200	Flanking Active TSS	Colonic Mucosa	Colon
7	chr4:8200200-8203800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:8200200-8204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8200200-8204000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:8200400-8203000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:8200400-8203000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:8200400-8203600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:8200400-8203600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr4:8200400-8203600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:8200400-8204000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:8200400-8204000	Active TSS	Brain Anterior Caudate	brain
19	chr4:8200400-8204400	Flanking Active TSS	Fetal Thymus	thymus
20	chr4:8200600-8202400	Flanking Active TSS	Spleen	Spleen
21	chr4:8200600-8202600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:8200600-8202800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr4:8200600-8202800	Flanking Active TSS	Pancreas	Pancrea
24	chr4:8200600-8202800	Enhancers	K562	blood
25	chr4:8200600-8203000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:8200600-8203000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:8200600-8203000	Flanking Active TSS	Osteobl	bone
28	chr4:8200600-8203200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:8200600-8203200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:8200600-8203200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:8200600-8203400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:8200600-8203600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:8200600-8203800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:8200600-8204000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:8200600-8204000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:8200600-8205200	Flanking Active TSS	Dnd41	blood
37	chr4:8200800-8202600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:8200800-8202800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:8200800-8202800	Active TSS	Fetal Kidney	kidney
40	chr4:8200800-8203000	Flanking Active TSS	Fetal Stomach	stomach
41	chr4:8200800-8203000	Active TSS	Hela-S3	cervix
42	chr4:8200800-8203200	Active TSS	Brain Substantia Nigra	brain
43	chr4:8200800-8203400	Flanking Active TSS	Placenta	Placenta
44	chr4:8200800-8203800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr4:8201000-8202400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:8201000-8202400	Flanking Active TSS	Left Ventricle	heart
47	chr4:8201000-8202600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr4:8201000-8202800	Flanking Active TSS	Lung	lung
49	chr4:8201000-8202800	Active TSS	Psoas Muscle	Psoas
50	chr4:8201000-8202800	Flanking Active TSS	Stomach Mucosa	stomach

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