Variant report

Variant	rs2968865
Chromosome Location	chr7:124810399-124810400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1006334	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1021080	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10228686	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10234592	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10252579	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs10252798	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10254199	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10258873	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10264210	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1026836	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1026839	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs10269342	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs10270051	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10274820	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1031955	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10500098	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1086964	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767649	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11767737	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs11975363	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12533918	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12534466	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs12539580	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs13224820	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs13234368	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs13234634	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1383749	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1383750	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1404898	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs1427579	0.81[ASN][1000 genomes]
rs1454126	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471571	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481327	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs1481328	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1481329	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481330	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481337	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1481338	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs1481342	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481343	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1525614	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1525618	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1525619	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs1531716	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1552118	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1552120	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1600739	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1728929	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728930	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871770	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1871771	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1902003	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986124	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1994024	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1994025	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2170351	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2402757	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2402763	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs585608	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs589823	0.90[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap]
rs606229	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap]
rs607260	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs616697	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs628365	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs632459	0.93[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs635682	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs636161	0.90[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap]
rs6466982	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6466989	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs648619	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap]
rs651869	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs659987	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs662165	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs665753	0.90[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap]
rs676037	0.90[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap]
rs683707	0.90[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap]
rs684345	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.81[MKK][hapmap]
rs685909	0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap]
rs6942997	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6952915	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6954614	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs6957525	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs6977313	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs719972	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs723444	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7776821	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7778875	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7779594	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7787605	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7792654	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7794565	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7794959	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7797428	0.87[ASN][1000 genomes]
rs7799712	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs7802007	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7806530	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs7810654	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs792616	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792627	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792628	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900047	0.85[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs998054	0.85[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2968865	RP11-3B12.1	cis	Artery Tibial	GTEx
rs2968865	WASL	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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