Variant report

Variant	rs6813080
Chromosome Location	chr4:8540221-8540222
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8538338..8543611-chr4:8548493..8553766,7	MCF-7	breast:
2	chr4:8469952..8472230-chr4:8539162..8541122,2	MCF-7	breast:
3	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1106707	0.94[ASN][1000 genomes]
rs11723504	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11727986	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12499116	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13116362	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13151782	0.86[ASN][1000 genomes]
rs17204393	0.84[ASN][1000 genomes]
rs3115410	0.89[ASN][1000 genomes]
rs34257763	0.83[ASN][1000 genomes]
rs35097287	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35822470	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36092221	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4449400	0.81[AMR][1000 genomes]
rs4696839	0.90[AFR][1000 genomes]
rs55723892	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56379295	0.81[ASN][1000 genomes]
rs61570587	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62287449	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6447879	0.94[ASN][1000 genomes]
rs73227136	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7377238	0.93[ASN][1000 genomes]
rs7670005	0.94[ASN][1000 genomes]
rs868591	0.84[ASN][1000 genomes]
rs870095	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs870096	0.94[ASN][1000 genomes]
rs870097	0.94[ASN][1000 genomes]

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	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv980117	chr4:8535043-8545141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 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	chr4:8532600-8542800	Enhancers	Placenta	Placenta
2	chr4:8533200-8542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8535000-8541600	Enhancers	Pancreas	Pancrea
4	chr4:8535800-8540400	Enhancers	Lung	lung
5	chr4:8536000-8541400	Enhancers	Stomach Mucosa	stomach
6	chr4:8536600-8541400	Enhancers	Esophagus	oesophagus
7	chr4:8537400-8542200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:8537600-8542600	Enhancers	GM12878-XiMat	blood
9	chr4:8538200-8541600	Enhancers	HMEC	breast
10	chr4:8538200-8542200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:8538200-8542200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:8538400-8541200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:8538400-8541200	Enhancers	Osteobl	bone
14	chr4:8538400-8542200	Enhancers	NHDF-Ad	bronchial
15	chr4:8538600-8541200	Enhancers	HSMM	muscle
16	chr4:8538600-8541200	Enhancers	NHLF	lung
17	chr4:8538600-8542200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:8538800-8541000	Enhancers	A549	lung
19	chr4:8538800-8541200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:8538800-8541800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:8539000-8541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8539000-8541400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:8539200-8540400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:8539200-8542200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:8539400-8540800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:8539400-8541000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:8539400-8541800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:8539400-8546400	Weak transcription	HSMMtube	muscle
29	chr4:8539600-8541600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:8539600-8546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:8540000-8540800	Enhancers	NH-A	brain
32	chr4:8540000-8540800	Enhancers	NHEK	skin
33	chr4:8540200-8540800	Weak transcription	Spleen	Spleen
34	chr4:8540200-8541200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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