Variant report

Variant	rs4730954
Chromosome Location	chr7:119917158-119917159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:119915799..119917690-chr7:119919772..119921442,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10224017	0.98[ASN][1000 genomes]
rs10224700	0.83[ASN][1000 genomes]
rs10224809	0.83[ASN][1000 genomes]
rs10237275	0.88[ASN][1000 genomes]
rs10247464	0.81[ASN][1000 genomes]
rs10250387	0.88[ASN][1000 genomes]
rs10251877	0.95[ASN][1000 genomes]
rs10252729	0.83[ASN][1000 genomes]
rs10278455	0.83[ASN][1000 genomes]
rs10279729	0.84[ASN][1000 genomes]
rs1035014	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10488286	0.91[TSI][hapmap]
rs10488287	0.85[ASN][1000 genomes]
rs10953908	0.85[ASN][1000 genomes]
rs10953909	0.82[TSI][hapmap]
rs11769340	0.91[TSI][hapmap]
rs12533932	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12666459	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12706276	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12706279	0.83[ASN][1000 genomes]
rs12706280	0.85[ASN][1000 genomes]
rs1304206	0.85[ASN][1000 genomes]
rs17142585	0.88[ASN][1000 genomes]
rs1860704	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1990429	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2107994	0.95[ASN][1000 genomes]
rs2190183	0.88[ASN][1000 genomes]
rs2191734	1.00[ASN][1000 genomes]
rs2191736	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs2191737	0.85[ASN][1000 genomes]
rs2402525	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2402526	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2402527	0.85[ASN][1000 genomes]
rs34850246	0.96[TSI][hapmap]
rs3735339	0.88[ASN][1000 genomes]
rs3814463	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[ASN][1000 genomes]
rs4730955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730956	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4730958	0.85[ASN][1000 genomes]
rs4730960	0.85[ASN][1000 genomes]
rs6466739	0.95[ASN][1000 genomes]
rs6466740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466741	1.00[ASN][1000 genomes]
rs6466742	0.96[TSI][hapmap]
rs6942715	0.85[ASN][1000 genomes]
rs6943223	0.86[ASN][1000 genomes]
rs6956643	0.83[ASN][1000 genomes]
rs6974349	0.83[ASN][1000 genomes]
rs7778213	0.83[TSI][hapmap]
rs7782622	0.86[ASN][1000 genomes]
rs7790816	0.87[CHD][hapmap]
rs7792688	0.83[ASN][1000 genomes]
rs7792980	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[ASN][1000 genomes]
rs7795487	0.86[ASN][1000 genomes]
rs7800545	0.96[TSI][hapmap]
rs7801487	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7805413	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8180795	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608326	chr7:119828331-119995890	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1843078	chr7:119909603-119934006	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730954	CADPS2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119914600-119920200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:119914600-119921000	Weak transcription	Ovary	ovary
3	chr7:119915600-119919200	Active TSS	Brain Anterior Caudate	brain
4	chr7:119916000-119920000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:119916200-119922400	Active TSS	GM12878-XiMat	blood
6	chr7:119916400-119917600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:119916600-119917600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr7:119916600-119917800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:119917000-119917200	Enhancers	Brain Substantia Nigra	brain
10	chr7:119917000-119917400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:119917000-119917600	Active TSS	Fetal Brain Male	brain
12	chr7:119917000-119917600	Active TSS	Fetal Brain Female	brain
13	chr7:119917000-119918200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links