Variant report

Variant	rs680890
Chromosome Location	chr8:102500951-102500952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:102500781-102501427	T-47D	breast:	n/a	n/a
2	POLR2A	chr8:102500646-102501256	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:102500756-102501220	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
2	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
3	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
4	chr8:102408567..102411486-chr8:102500587..102503293,2	MCF-7	breast:
5	chr8:102495357..102497388-chr8:102500658..102502645,2	K562	blood:
6	chr8:102313558..102315796-chr8:102498661..102502752,3	MCF-7	breast:
7	chr8:102500947..102503188-chr8:102567320..102569039,2	MCF-7	breast:
8	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
GRHL2	TF binding region
ENSG00000271560	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000239211	Chromatin interaction
ENSG00000253644	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2847730	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475304	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs509390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514588	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs515622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523244	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs534285	1.00[JPT][hapmap]
rs537658	0.82[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs541226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560043	1.00[JPT][hapmap]
rs561626	1.00[JPT][hapmap]
rs568894	1.00[JPT][hapmap]
rs589919	0.92[ASN][1000 genomes]
rs624013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687909	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891229	chr8:102490380-102511670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102496200-102501000	Enhancers	Placenta	Placenta
2	chr8:102496600-102501200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:102497400-102503000	Weak transcription	Stomach Mucosa	stomach
4	chr8:102497400-102506000	Weak transcription	Ovary	ovary
5	chr8:102499800-102503400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:102500400-102501600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:102500600-102501000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:102500600-102501000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:102500600-102501000	Enhancers	Pancreas	Pancrea
10	chr8:102500600-102501200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr8:102500600-102501200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:102500600-102501400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:102500600-102501400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:102500600-102501400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:102500600-102502200	Enhancers	NHEK	skin
16	chr8:102500800-102501000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:102500800-102501000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:102500800-102501000	Enhancers	Esophagus	oesophagus
19	chr8:102500800-102501000	Bivalent Enhancer	Thymus	Thymus
20	chr8:102500800-102501400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:102500800-102501400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr8:102500800-102501600	Enhancers	HMEC	breast
23	chr8:102500800-102502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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