Variant report

Variant	rs2204719
Chromosome Location	chr8:35236234-35236235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10086433	1.00[ASN][1000 genomes]
rs10091291	0.97[ASN][1000 genomes]
rs10101937	0.97[ASN][1000 genomes]
rs10104660	0.98[ASN][1000 genomes]
rs10108964	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110454	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113220	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503979	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954985	1.00[ASN][1000 genomes]
rs10954986	1.00[ASN][1000 genomes]
rs10954987	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1112204	0.86[ASN][1000 genomes]
rs11984839	0.98[ASN][1000 genomes]
rs11991431	0.92[ASN][1000 genomes]
rs11991965	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11992772	1.00[ASN][1000 genomes]
rs11993717	0.86[ASN][1000 genomes]
rs11996793	0.99[ASN][1000 genomes]
rs11997743	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056409	1.00[ASN][1000 genomes]
rs12541372	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542495	1.00[ASN][1000 genomes]
rs12542606	0.83[ASN][1000 genomes]
rs12545700	0.86[ASN][1000 genomes]
rs12550658	1.00[ASN][1000 genomes]
rs12679477	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12680114	1.00[ASN][1000 genomes]
rs13250741	0.91[ASN][1000 genomes]
rs13266519	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13280010	0.97[ASN][1000 genomes]
rs13282296	0.92[ASN][1000 genomes]
rs13282746	0.96[ASN][1000 genomes]
rs1358563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406376	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528704	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1528705	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528708	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528709	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1528710	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528717	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528718	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528719	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528722	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1534584	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1534587	0.86[ASN][1000 genomes]
rs1554864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590092	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1590093	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1609345	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16883904	0.97[ASN][1000 genomes]
rs1919336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919344	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1919346	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919348	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1919349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919355	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950042	0.87[ASN][1000 genomes]
rs1980396	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2405735	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28388271	1.00[ASN][1000 genomes]
rs28395502	1.00[ASN][1000 genomes]
rs28412900	1.00[ASN][1000 genomes]
rs2950892	0.87[ASN][1000 genomes]
rs2950893	0.87[ASN][1000 genomes]
rs2950895	0.93[ASN][1000 genomes]
rs2950897	0.97[ASN][1000 genomes]
rs2950898	0.97[ASN][1000 genomes]
rs2950901	0.98[ASN][1000 genomes]
rs2950909	0.86[ASN][1000 genomes]
rs2950924	0.98[ASN][1000 genomes]
rs2980378	1.00[ASN][1000 genomes]
rs2980391	1.00[ASN][1000 genomes]
rs2980403	0.86[ASN][1000 genomes]
rs2980406	0.98[ASN][1000 genomes]
rs2980408	0.97[ASN][1000 genomes]
rs3108619	0.98[ASN][1000 genomes]
rs35169691	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35365523	1.00[ASN][1000 genomes]
rs35985268	0.97[ASN][1000 genomes]
rs3744	0.86[ASN][1000 genomes]
rs4255132	0.86[ASN][1000 genomes]
rs4360290	1.00[ASN][1000 genomes]
rs4452796	0.97[ASN][1000 genomes]
rs4492371	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540403	0.97[ASN][1000 genomes]
rs4739302	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739304	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4739399	0.87[ASN][1000 genomes]
rs4739400	0.93[ASN][1000 genomes]
rs4739402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739406	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4739407	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5000056	0.98[ASN][1000 genomes]
rs56114779	0.81[ASN][1000 genomes]
rs58886150	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6468316	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468317	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991984	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6992809	1.00[ASN][1000 genomes]
rs6997453	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006157	0.98[ASN][1000 genomes]
rs7013157	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7815710	0.84[ASN][1000 genomes]
rs7817194	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819547	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7824855	0.98[ASN][1000 genomes]
rs7827072	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827646	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829022	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829585	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7839131	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs871994	1.00[ASN][1000 genomes]
rs9297236	0.97[ASN][1000 genomes]
rs9297237	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs951515	0.99[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	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
4	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
5	nsv890717	chr8:35184361-35315188	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1830629	chr8:35218820-35256073	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2204719	ASH2L	cis	parietal	SCAN
rs2204719	UNC5D	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35229000-35242000	Weak transcription	Fetal Brain Female	brain
2	chr8:35231000-35236400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:35233600-35236600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:35234600-35237200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:35234800-35236800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:35234800-35238800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:35235400-35236400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:35235400-35236600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:35235600-35236800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr8:35235600-35239200	Weak transcription	Fetal Heart	heart
11	chr8:35235600-35242000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:35235800-35236600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr8:35236000-35238800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:35236200-35237200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:35236200-35240200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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