Variant report

Variant	rs531120828
Chromosome Location	chr4:187640478-187640479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187619254..187623290-chr4:187636723..187640845,3	MCF-7	breast:
2	chr4:187639865..187641843-chr4:187644309..187646405,2	MCF-7	breast:
3	chr4:187639395..187641125-chr4:187652205..187654706,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription 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
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187630600-187641600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:187631000-187641200	Weak transcription	Fetal Kidney	kidney
5	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187635600-187640800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
10	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:187637000-187641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:187637400-187640800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:187637400-187641200	Weak transcription	Osteobl	bone
14	chr4:187637400-187641600	Weak transcription	NH-A	brain
15	chr4:187637400-187643000	Weak transcription	Aorta	Aorta
16	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:187637800-187641400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:187638200-187641800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
20	chr4:187639200-187641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:187639200-187642600	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:187639400-187643400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:187639600-187642600	Genic enhancers	NHEK	skin
24	chr4:187639800-187641000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:187639800-187641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:187639800-187641600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:187640000-187640600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:187640000-187641200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:187640000-187642000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr4:187640200-187640600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:187640200-187641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:187640400-187641000	Weak transcription	Fetal Heart	heart
33	chr4:187640400-187641400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:187640400-187643200	Weak transcription	HSMM	muscle

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