Variant report

Variant	rs10930979
Chromosome Location	chr2:182616705-182616706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182616188..182619083-chr2:182775536..182777144,2	MCF-7	breast:
2	chr2:182615557..182618410-chr2:182759397..182761263,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165936	0.84[YRI][hapmap]
rs10173114	0.87[YRI][hapmap]
rs10179547	0.89[YRI][hapmap]
rs10183527	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10183937	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs10190772	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803953	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs11884097	0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs11886921	0.93[ASN][1000 genomes]
rs11895376	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11901603	0.94[ASN][1000 genomes]
rs11902910	0.94[ASN][1000 genomes]
rs13414894	0.94[ASN][1000 genomes]
rs13415272	0.94[ASN][1000 genomes]
rs13424337	0.94[ASN][1000 genomes]
rs13425734	0.87[YRI][hapmap]
rs13428496	0.94[ASN][1000 genomes]
rs1343793	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs16867494	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2037799	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2368225	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2582999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4018749	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs57930770	0.82[ASN][1000 genomes]
rs60384758	0.94[ASN][1000 genomes]
rs6740944	0.82[ASN][1000 genomes]
rs6754481	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7567220	0.94[ASN][1000 genomes]
rs7567371	0.82[ASN][1000 genomes]
rs7595805	0.91[ASN][1000 genomes]
rs9288073	0.94[ASN][1000 genomes]
rs9288074	0.94[ASN][1000 genomes]
rs951542	0.94[ASN][1000 genomes]
rs951543	0.94[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr2:182612800-182619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182614400-182617000	Enhancers	Placenta	Placenta
3	chr2:182615200-182616800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:182615400-182618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:182615400-182618600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:182615600-182616800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:182615600-182618600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:182615600-182620200	Enhancers	Hela-S3	cervix
9	chr2:182615800-182616800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:182615800-182617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:182616000-182616800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:182616000-182618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:182616600-182619400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:182616600-182619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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