Variant report

Variant	rs10950314
Chromosome Location	chr7:10781957-10781958
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:10781219..10782750-chr7:10819283..10821233,2	K562	blood:
2	chr7:10753803..10755768-chr7:10780832..10782453,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10230225	0.89[ASN][1000 genomes]
rs10230296	0.90[ASN][1000 genomes]
rs10232354	0.82[ASN][1000 genomes]
rs10233178	0.90[ASN][1000 genomes]
rs10235207	0.91[ASN][1000 genomes]
rs10238503	0.89[ASN][1000 genomes]
rs10241830	0.89[ASN][1000 genomes]
rs10250526	0.90[ASN][1000 genomes]
rs10258847	0.88[ASN][1000 genomes]
rs10259141	0.88[ASN][1000 genomes]
rs10259958	0.81[ASN][1000 genomes]
rs10264572	0.93[ASN][1000 genomes]
rs10264971	0.82[ASN][1000 genomes]
rs10268146	0.89[ASN][1000 genomes]
rs10268469	0.91[ASN][1000 genomes]
rs10272459	0.91[ASN][1000 genomes]
rs10276033	0.89[ASN][1000 genomes]
rs10276038	0.92[ASN][1000 genomes]
rs10278489	0.90[ASN][1000 genomes]
rs10486094	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10486096	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486100	0.91[ASN][1000 genomes]
rs10950313	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971102	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11974904	0.81[ASN][1000 genomes]
rs11976168	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978409	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12113341	0.83[ASN][1000 genomes]
rs12538903	0.82[ASN][1000 genomes]
rs12670938	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671358	0.92[ASN][1000 genomes]
rs12671384	0.93[ASN][1000 genomes]
rs13246956	0.82[ASN][1000 genomes]
rs17163474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163486	0.83[ASN][1000 genomes]
rs17163529	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163540	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17528637	0.91[ASW][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs2189534	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.89[ASN][1000 genomes]
rs2189538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2189539	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189542	0.82[ASN][1000 genomes]
rs2189543	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28681162	0.89[ASN][1000 genomes]
rs2882976	0.82[ASN][1000 genomes]
rs4236260	0.82[ASN][1000 genomes]
rs4289707	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467838	0.81[ASN][1000 genomes]
rs4719250	0.82[ASN][1000 genomes]
rs4720897	0.82[ASN][1000 genomes]
rs4720898	0.82[ASN][1000 genomes]
rs4720901	0.82[ASN][1000 genomes]
rs4720904	0.82[ASN][1000 genomes]
rs4720905	0.82[ASN][1000 genomes]
rs56137539	0.91[ASN][1000 genomes]
rs57599855	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59864617	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62454232	0.91[ASN][1000 genomes]
rs62454237	0.89[ASN][1000 genomes]
rs6460748	0.91[ASN][1000 genomes]
rs6944034	0.93[ASN][1000 genomes]
rs6944274	0.89[ASN][1000 genomes]
rs6944330	0.93[ASN][1000 genomes]
rs6947809	0.84[ASN][1000 genomes]
rs6947964	0.82[ASN][1000 genomes]
rs6948792	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6950230	0.80[CEU][hapmap];0.89[ASN][1000 genomes]
rs6961358	0.93[ASN][1000 genomes]
rs6961857	0.93[ASN][1000 genomes]
rs6963007	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971463	0.88[ASN][1000 genomes]
rs6973621	0.81[ASN][1000 genomes]
rs6974968	0.81[ASN][1000 genomes]
rs6978101	0.89[ASN][1000 genomes]
rs6978203	0.82[ASN][1000 genomes]
rs6978956	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979248	0.81[ASN][1000 genomes]
rs6979759	0.81[ASN][1000 genomes]
rs73678140	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73678141	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73678142	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73678143	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73678145	0.95[ASN][1000 genomes]
rs73678147	0.93[ASN][1000 genomes]
rs73678149	0.93[ASN][1000 genomes]
rs73680912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs739889	0.84[ASN][1000 genomes]
rs739890	0.84[ASN][1000 genomes]
rs739891	0.84[ASN][1000 genomes]
rs757390	0.82[ASN][1000 genomes]
rs757391	0.82[ASN][1000 genomes]
rs7784127	0.82[ASN][1000 genomes]
rs7787685	0.98[ASN][1000 genomes]
rs7788250	0.99[ASN][1000 genomes]
rs7795776	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7809961	0.89[ASN][1000 genomes]
rs9692246	0.82[ASN][1000 genomes]
rs9692253	0.82[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	nsv887596	chr7:10493399-10852392	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025328	chr7:10518861-10810504	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10950314	VWDE	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10779800-10798200	Weak transcription	K562	blood
2	chr7:10781600-10782000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:10781600-10782400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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