Variant report

Variant	rs7902871
Chromosome Location	chr10:98809703-98809704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11188997	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11188998	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11595198	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17112342	0.86[ASN][1000 genomes]
rs2279507	0.84[ASN][1000 genomes]
rs2805591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34256921	0.81[EUR][1000 genomes]
rs34511307	0.86[ASN][1000 genomes]
rs41284256	0.81[EUR][1000 genomes]
rs60670419	0.98[ASN][1000 genomes]
rs61864170	0.84[ASN][1000 genomes]
rs61864171	0.84[ASN][1000 genomes]
rs61864173	0.95[ASN][1000 genomes]
rs61864175	0.95[ASN][1000 genomes]
rs7893716	0.83[ASN][1000 genomes]
rs7914872	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs871992	0.93[ASN][1000 genomes]
rs902470	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1042398	chr10:98691406-98851346	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv2758236	chr10:98789963-98962472	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759777	chr10:98789963-98962472	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1037576	chr10:98791099-98873649	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895912	chr10:98794615-98838694	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1039568	chr10:98800844-98868329	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1040262	chr10:98805336-98872134	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Diastolic blood pressure (alcohol consumption interaction)	24376456	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7902871	ENTPD7	cis	cerebellum	SCAN
rs7902871	SEMA4G	cis	cerebellum	SCAN
rs7902871	DHDPSL	cis	parietal	SCAN
rs7902871	CEP55	cis	cerebellum	SCAN
rs7902871	C20orf43	trans	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98793000-98810600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:98797800-98830800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:98798000-98810000	Weak transcription	Right Atrium	heart
4	chr10:98798000-98811200	Strong transcription	Fetal Thymus	thymus
5	chr10:98798000-98818000	Weak transcription	Brain Angular Gyrus	brain
6	chr10:98798000-98818000	Weak transcription	Brain Anterior Caudate	brain
7	chr10:98798200-98809800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:98798200-98812600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:98798200-98819200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:98805200-98810000	Strong transcription	Thymus	Thymus
11	chr10:98807000-98820400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:98807400-98812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:98808400-98812800	Weak transcription	Fetal Brain Female	brain
14	chr10:98809000-98816200	Weak transcription	Fetal Brain Male	brain
15	chr10:98809000-98819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:98809400-98810200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:98809400-98812800	Weak transcription	Brain Germinal Matrix	brain
18	chr10:98809600-98809800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:98809600-98810200	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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