Variant report

Variant	rs2950895
Chromosome Location	chr8:35165517-35165518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10086433	0.93[ASN][1000 genomes]
rs10091291	0.96[ASN][1000 genomes]
rs10101937	0.96[ASN][1000 genomes]
rs10104660	0.94[ASN][1000 genomes]
rs10108964	0.93[ASN][1000 genomes]
rs10110454	0.92[ASN][1000 genomes]
rs10113220	0.93[ASN][1000 genomes]
rs10503979	0.89[ASN][1000 genomes]
rs10954985	0.93[ASN][1000 genomes]
rs10954986	0.93[ASN][1000 genomes]
rs10954987	0.89[ASN][1000 genomes]
rs1112204	0.91[ASN][1000 genomes]
rs11984839	0.94[ASN][1000 genomes]
rs11991431	0.98[ASN][1000 genomes]
rs11991965	0.93[ASN][1000 genomes]
rs11992772	0.93[ASN][1000 genomes]
rs11993717	0.91[ASN][1000 genomes]
rs11996793	0.92[ASN][1000 genomes]
rs11997743	0.89[ASN][1000 genomes]
rs12056409	0.93[ASN][1000 genomes]
rs12541372	0.93[ASN][1000 genomes]
rs12542495	0.93[ASN][1000 genomes]
rs12542606	0.89[ASN][1000 genomes]
rs12545700	0.91[ASN][1000 genomes]
rs12550658	0.93[ASN][1000 genomes]
rs12680114	0.93[ASN][1000 genomes]
rs13250741	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13266519	0.89[ASN][1000 genomes]
rs13280010	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13282296	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282746	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1358563	0.93[ASN][1000 genomes]
rs1358564	0.93[ASN][1000 genomes]
rs1406376	0.93[ASN][1000 genomes]
rs1528704	0.89[ASN][1000 genomes]
rs1528705	0.89[ASN][1000 genomes]
rs1528708	0.93[ASN][1000 genomes]
rs1528709	0.87[ASN][1000 genomes]
rs1528710	0.89[ASN][1000 genomes]
rs1528716	0.92[ASN][1000 genomes]
rs1528717	0.93[ASN][1000 genomes]
rs1528718	0.93[ASN][1000 genomes]
rs1528719	0.93[ASN][1000 genomes]
rs1534584	0.89[ASN][1000 genomes]
rs1534587	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1554864	0.93[ASN][1000 genomes]
rs1590092	0.87[ASN][1000 genomes]
rs1590093	0.89[ASN][1000 genomes]
rs1609345	0.89[ASN][1000 genomes]
rs16883904	0.89[ASN][1000 genomes]
rs1919336	0.93[ASN][1000 genomes]
rs1919337	0.93[ASN][1000 genomes]
rs1919346	0.93[ASN][1000 genomes]
rs1919349	0.93[ASN][1000 genomes]
rs1919355	0.93[ASN][1000 genomes]
rs1950042	0.93[ASN][1000 genomes]
rs1980396	0.89[ASN][1000 genomes]
rs2204719	0.93[ASN][1000 genomes]
rs2405735	0.93[ASN][1000 genomes]
rs28388271	0.93[ASN][1000 genomes]
rs28395502	0.93[ASN][1000 genomes]
rs28412900	0.93[ASN][1000 genomes]
rs2950892	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2950893	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2950897	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2950898	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2950901	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2950909	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950916	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2950924	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980378	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980391	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980403	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2980406	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980408	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108619	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35169691	0.88[ASN][1000 genomes]
rs35365523	0.93[ASN][1000 genomes]
rs35985268	0.90[ASN][1000 genomes]
rs3744	0.91[ASN][1000 genomes]
rs4255132	0.91[ASN][1000 genomes]
rs4360290	0.93[ASN][1000 genomes]
rs4452796	0.89[ASN][1000 genomes]
rs4492371	0.90[ASN][1000 genomes]
rs4540403	0.96[ASN][1000 genomes]
rs4739302	0.93[ASN][1000 genomes]
rs4739304	0.93[ASN][1000 genomes]
rs4739399	0.93[ASN][1000 genomes]
rs4739400	1.00[ASN][1000 genomes]
rs4739402	0.93[ASN][1000 genomes]
rs5000056	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56114779	0.86[ASN][1000 genomes]
rs58886150	0.89[ASN][1000 genomes]
rs6468316	0.85[ASN][1000 genomes]
rs6468317	0.89[ASN][1000 genomes]
rs6991984	0.90[ASN][1000 genomes]
rs6992809	0.93[ASN][1000 genomes]
rs6997453	0.93[ASN][1000 genomes]
rs7006157	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013157	0.89[ASN][1000 genomes]
rs7815710	0.90[ASN][1000 genomes]
rs7817194	0.93[ASN][1000 genomes]
rs7819547	0.86[ASN][1000 genomes]
rs7824855	0.94[ASN][1000 genomes]
rs7827072	0.93[ASN][1000 genomes]
rs7827646	0.89[ASN][1000 genomes]
rs7829022	0.88[ASN][1000 genomes]
rs7829585	0.89[ASN][1000 genomes]
rs7839131	0.89[ASN][1000 genomes]
rs871994	0.93[ASN][1000 genomes]
rs9297236	0.96[ASN][1000 genomes]
rs9297237	0.93[ASN][1000 genomes]
rs951515	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831284	chr8:35018419-35193084	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv429910	chr8:35021411-35257445	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv982097	chr8:35161434-35165858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2950895	ASH2L	cis	parietal	SCAN
rs2950895	LETM2	cis	cerebellum	SCAN
rs2950895	UNC5D	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35155800-35166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:35159200-35178200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:35161400-35166800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:35162000-35178000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:35162000-35178600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:35162800-35167000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:35162800-35168400	Weak transcription	Fetal Brain Male	brain

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