Variant report

Variant	rs146476472
Chromosome Location	chr4:8200284-8200285
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	RELA	chr4:8200113-8201230	GM19099	blood:	n/a	n/a
2	MXI1	chr4:8200279-8200287	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr4:8200069-8201069	MCF10A-Er-Src	breast:	n/a	chr4:8200151-8200166 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200164
4	POLR2A	chr4:8200122-8204378	GM18526	blood:	n/a	n/a
5	POU2F2	chr4:8200274-8201319	GM12878	blood:	n/a	chr4:8201147-8201159
6	MAX	chr4:8200160-8201264	NB4	blood:	n/a	n/a
7	RUNX3	chr4:8200241-8201192	GM12878	blood:	n/a	n/a
8	RUNX3	chr4:8200204-8201504	GM12878	blood:	n/a	n/a
9	MTA3	chr4:8200020-8205097	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:8200278-8205230	GM12891	blood:	n/a	n/a
11	POLR2A	chr4:8200077-8201259	HL-60	blood:	n/a	n/a
12	CHD2	chr4:8200215-8201353	GM12878	blood:	n/a	n/a
13	RELA	chr4:8200269-8201381	GM15510	blood:	n/a	n/a
14	ELF1	chr4:8200034-8201337	GM12878	blood:	n/a	chr4:8200966-8200978 chr4:8200133-8200145
15	SPI1	chr4:8200225-8201234	HL-60	blood:	n/a	n/a
16	BHLHE40	chr4:8200267-8201188	GM12878	blood:	n/a	chr4:8200519-8200540
17	RFX5	chr4:8200240-8200372	HepG2	liver:	n/a	n/a
18	STAT5A	chr4:8200209-8201298	GM12878	blood:	n/a	chr4:8200938-8200946 chr4:8201147-8201159
19	MYC	chr4:8200014-8200556	MCF10A-Er-Src	breast:	n/a	chr4:8200151-8200166 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200164

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	chr2:74258378..74259054-chr4:8199921..8200797,2	MCF-7	breast:
4	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
3	chr4:8191800-8200800	Enhancers	Placenta	Placenta
4	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
10	chr4:8195000-8200400	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:8195400-8200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
13	chr4:8195600-8200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:8195600-8200600	Enhancers	Esophagus	oesophagus
15	chr4:8195800-8200600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:8196000-8200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:8196600-8200400	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:8196600-8200600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:8198800-8201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8199000-8200600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:8199000-8200800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:8199200-8200600	Enhancers	Pancreas	Pancrea
24	chr4:8199200-8200600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:8199200-8200600	Enhancers	Spleen	Spleen
26	chr4:8199400-8200600	Enhancers	Fetal Intestine Small	intestine
27	chr4:8199400-8201000	Enhancers	Stomach Mucosa	stomach
28	chr4:8199600-8200400	Enhancers	Primary B cells from peripheral blood	blood
29	chr4:8199600-8200600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:8199600-8200600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:8199600-8200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:8199600-8200600	Enhancers	HUVEC	blood vessel
33	chr4:8199600-8201000	Enhancers	Gastric	stomach
34	chr4:8199600-8201000	Enhancers	Lung	lung
35	chr4:8199600-8201000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr4:8199800-8200400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr4:8199800-8200400	Enhancers	Liver	Liver
38	chr4:8199800-8200400	Enhancers	Duodenum Mucosa	Duodenum
39	chr4:8199800-8200400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:8199800-8200400	Enhancers	GM12878-XiMat	blood
41	chr4:8199800-8200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:8199800-8200600	Enhancers	Fetal Kidney	kidney
43	chr4:8200000-8200400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:8200000-8200400	Enhancers	Primary T cells from cord blood	blood
45	chr4:8200000-8200400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:8200000-8200400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr4:8200000-8200400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:8200000-8200600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:8200000-8200600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr4:8200000-8200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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