Variant report

Variant	rs806175
Chromosome Location	chr7:127289435-127289436
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	GATA2	chr7:127289075-127289474	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127285659..127287680-chr7:127288381..127290683,3	MCF-7	breast:
2	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000004059	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12668077	0.95[CHB][hapmap]
rs2073561	0.81[CEU][hapmap]
rs2582717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap]
rs327510	0.90[CHB][hapmap]
rs327512	0.90[CHB][hapmap]
rs327516	0.90[CHB][hapmap]
rs3735642	0.81[CEU][hapmap]
rs3735644	0.81[CEU][hapmap]
rs698406	0.81[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs712697	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs712700	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap]
rs712701	0.81[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap]
rs712703	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap]
rs712704	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap]
rs712707	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs712719	0.95[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap]
rs806166	0.84[ASN][1000 genomes]
rs806169	0.84[ASN][1000 genomes]
rs806172	0.95[CHB][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs806174	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806180	0.90[CHB][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs806188	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs806193	0.85[CEU][hapmap];0.93[CHB][hapmap]
rs806214	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs806216	0.81[CEU][hapmap]
rs806219	0.81[CEU][hapmap];0.88[MEX][hapmap]
rs989099	0.81[CEU][hapmap]
rs989100	0.81[CEU][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127283000-127291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:127284600-127291000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:127284600-127291000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:127284800-127291000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127285200-127291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:127285400-127291000	Weak transcription	Placenta	Placenta
7	chr7:127285600-127291000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:127285600-127291000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:127288400-127290000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:127288400-127290800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:127289000-127290400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:127289000-127290800	Enhancers	K562	blood
13	chr7:127289200-127289600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:127289200-127291000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links