Variant report

Variant	rs10238367
Chromosome Location	chr7:12879444-12879445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10229134	0.85[EUR][1000 genomes]
rs10230511	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10238211	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10240689	0.88[ASN][1000 genomes]
rs10243288	0.90[EUR][1000 genomes]
rs10243324	0.90[EUR][1000 genomes]
rs10246359	0.82[EUR][1000 genomes]
rs10254295	0.93[ASN][1000 genomes]
rs10259240	0.92[ASN][1000 genomes]
rs10259524	0.93[ASN][1000 genomes]
rs10269634	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10278442	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17166415	0.92[ASN][1000 genomes]
rs17166416	0.90[ASN][1000 genomes]
rs17619124	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17619332	0.90[EUR][1000 genomes]
rs17681457	0.92[ASN][1000 genomes]
rs1990346	0.85[EUR][1000 genomes]
rs2109290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2191265	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs2191266	0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2215333	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2356698	0.92[ASN][1000 genomes]
rs2357046	0.90[ASN][1000 genomes]
rs2357049	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2357052	0.93[CEU][hapmap]
rs2357053	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28433921	0.88[EUR][1000 genomes]
rs28873158	0.91[ASN][1000 genomes]
rs35490471	0.82[EUR][1000 genomes]
rs4288267	0.85[EUR][1000 genomes]
rs4288268	0.88[ASN][1000 genomes]
rs4719339	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4721153	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs55991971	0.92[ASN][1000 genomes]
rs6460980	0.92[ASN][1000 genomes]
rs6942839	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6948718	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6950280	0.90[EUR][1000 genomes]
rs6950340	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6953097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6959543	0.82[EUR][1000 genomes]
rs6961897	0.90[EUR][1000 genomes]
rs6962633	0.81[EUR][1000 genomes]
rs6969461	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6976082	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs758675	0.96[CEU][hapmap]
rs7783477	0.92[ASN][1000 genomes]
rs7787728	0.88[ASN][1000 genomes]
rs7790527	0.90[EUR][1000 genomes]
rs7791902	0.93[ASN][1000 genomes]
rs7800218	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7800580	0.85[EUR][1000 genomes]
rs7803338	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7808814	0.88[ASN][1000 genomes]
rs7809081	0.85[EUR][1000 genomes]
rs7810511	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12878200-12880000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:12879000-12880400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:12879200-12879600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:12879200-12879600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:12879200-12879600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:12879200-12879800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:12879200-12880000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:12879200-12880000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:12879200-12880000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:12879200-12880000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:12879200-12880400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:12879400-12879600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:12879400-12879600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:12879400-12879800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:12879400-12879800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:12879400-12879800	Enhancers	Pancreas	Pancrea
17	chr7:12879400-12879800	Enhancers	Stomach Mucosa	stomach
18	chr7:12879400-12880000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:12879400-12880000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:12879400-12886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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