Variant report

Variant	rs7812298
Chromosome Location	chr8:42608579-42608580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10087172	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092346	0.81[AFR][1000 genomes]
rs10107450	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10108797	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10109040	0.94[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10109864	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110332	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1072003	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808962	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986893	0.84[JPT][hapmap]
rs11995030	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13280604	0.84[JPT][hapmap]
rs1451240	0.84[JPT][hapmap]
rs1530847	0.84[JPT][hapmap]
rs16891561	0.87[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs1955185	0.84[JPT][hapmap]
rs1979140	0.84[JPT][hapmap]
rs2117225	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2196128	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304297	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501554	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236926	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs4736835	0.84[JPT][hapmap]
rs4737068	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4950	0.84[JPT][hapmap]
rs55828312	0.85[ASN][1000 genomes]
rs57645595	0.84[ASN][1000 genomes]
rs6474412	0.84[JPT][hapmap]
rs6474413	0.84[JPT][hapmap]
rs6474418	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6982753	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7000412	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001753	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002223	1.00[ASN][1000 genomes]
rs7004108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004381	0.84[JPT][hapmap]
rs7015935	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7017612	0.99[ASN][1000 genomes]
rs7459838	0.85[ASN][1000 genomes]
rs7824155	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825907	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837296	0.83[JPT][hapmap]
rs7839964	0.97[ASN][1000 genomes]
rs7845663	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892413	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298629	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42601200-42615400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:42607200-42608800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:42607400-42608600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:42607400-42609200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr8:42607600-42608800	Enhancers	HepG2	liver
6	chr8:42607800-42609400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:42607800-42609600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:42607800-42609800	Enhancers	Primary T cells from cord blood	blood
9	chr8:42608000-42609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:42608000-42609400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:42608000-42609600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:42608000-42609600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:42608000-42609600	Enhancers	Fetal Thymus	thymus
14	chr8:42608000-42610000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:42608000-42611000	Enhancers	Fetal Heart	heart
16	chr8:42608200-42608600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:42608200-42609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:42608200-42609000	Enhancers	GM12878-XiMat	blood

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