Variant report

Variant	rs10253171
Chromosome Location	chr7:14846291-14846292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10081218	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10215697	0.88[ASN][1000 genomes]
rs10226709	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10232210	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10237911	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs10243441	0.95[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs10258190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10273485	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs10273894	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs10277367	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10487779	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1079946	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1079947	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1120408	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1120409	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972669	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12673704	0.91[JPT][hapmap]
rs1464821	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs1525091	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs1525092	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1525097	1.00[CHB][hapmap]
rs1525098	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs1639230	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs1639233	1.00[CHB][hapmap]
rs1639234	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs1639236	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1639238	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1639239	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap]
rs1639240	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1639241	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17168405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1723221	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1723226	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs1723229	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1723230	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs1723231	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723232	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723233	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1723234	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723235	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1723236	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723237	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1723238	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723244	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723245	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723246	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723247	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1723248	1.00[CHB][hapmap]
rs1723250	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1723255	0.91[CHB][hapmap]
rs1880549	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1981680	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012289	0.83[ASN][1000 genomes]
rs2109497	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2191477	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2191480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358067	0.86[JPT][hapmap]
rs2358069	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28610468	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4518556	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4632953	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4719419	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4721368	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4721376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5014691	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.90[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461129	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6461133	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6461135	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67104645	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942721	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6952066	0.82[ASN][1000 genomes]
rs6967001	0.86[JPT][hapmap]
rs6976200	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6977546	1.00[CHB][hapmap]
rs714980	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs7456390	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7458312	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7776924	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7779072	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7782994	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7786354	0.82[ASN][1000 genomes]
rs7789633	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7789696	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7796443	0.95[CEU][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap]
rs7798664	0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7808899	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9690434	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs975432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs979498	0.82[ASN][1000 genomes]
rs979499	0.86[JPT][hapmap]
rs979501	0.86[JPT][hapmap]
rs982707	0.83[ASN][1000 genomes]
rs995871	1.00[CHB][hapmap];0.95[JPT][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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1020722	chr7:14792114-14871907	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1024192	chr7:14825622-14850257	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10253171	DGKB	cis	cerebellum	SCAN
rs10253171	SCIN	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14846200-14847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:14846200-14847400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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