Variant report

Variant	rs1317290
Chromosome Location	chr7:70764328-70764329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10230586	0.81[ASN][1000 genomes]
rs10238960	0.81[ASN][1000 genomes]
rs10246940	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10265527	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10267524	0.81[ASN][1000 genomes]
rs10268327	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10271589	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10807731	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10950257	0.82[GIH][hapmap];0.95[JPT][hapmap]
rs11761703	0.81[ASN][1000 genomes]
rs11765927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11768963	0.81[ASN][1000 genomes]
rs12154870	0.91[JPT][hapmap]
rs12155133	0.89[GIH][hapmap];0.91[JPT][hapmap]
rs12534549	0.81[ASN][1000 genomes]
rs12536668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317429	0.93[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1317892	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17143199	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1922525	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1950148	0.82[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2091792	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2107796	0.88[JPT][hapmap]
rs2107797	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2107800	0.81[ASN][1000 genomes]
rs2158609	0.81[ASN][1000 genomes]
rs2527294	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2527308	0.81[ASN][1000 genomes]
rs2527310	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2527314	0.81[ASN][1000 genomes]
rs2707432	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs28392825	0.81[ASN][1000 genomes]
rs28479972	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28588236	0.81[ASN][1000 genomes]
rs28664864	0.88[ASN][1000 genomes]
rs28678480	0.87[ASN][1000 genomes]
rs3923569	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs3923570	0.81[JPT][hapmap]
rs3973938	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4445102	0.82[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4520056	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4584034	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4719104	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719107	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4719109	0.81[ASN][1000 genomes]
rs4719113	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4719114	0.81[ASN][1000 genomes]
rs4719116	0.90[JPT][hapmap]
rs4719117	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs56166024	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57442026	0.82[ASN][1000 genomes]
rs59972409	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460649	0.81[ASN][1000 genomes]
rs6460651	0.80[ASN][1000 genomes]
rs6460652	0.82[ASN][1000 genomes]
rs6460653	0.86[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6957946	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6964131	0.81[ASN][1000 genomes]
rs6976592	0.82[ASN][1000 genomes]
rs6977328	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs73181630	0.80[ASN][1000 genomes]
rs7385083	0.91[JPT][hapmap]
rs7787933	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7788793	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7791195	0.81[ASN][1000 genomes]
rs7796585	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638614	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9638616	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9638618	0.86[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9638620	0.91[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9654908	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70751200-70768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:70751800-70768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:70751800-70768800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70752200-70773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:70756000-70765000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:70756000-70765200	Weak transcription	Fetal Heart	heart
7	chr7:70758800-70765200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70760400-70765200	Weak transcription	Ovary	ovary
9	chr7:70760400-70765400	Weak transcription	Fetal Stomach	stomach
10	chr7:70764000-70768800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:70764200-70765000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:70764200-70765000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:70764200-70765600	Weak transcription	Colon Smooth Muscle	Colon

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