Variant report

Variant	rs2190673
Chromosome Location	chr7:102540408-102540409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10241865	0.94[ASN][1000 genomes]
rs10242028	0.94[ASN][1000 genomes]
rs10250490	0.96[ASN][1000 genomes]
rs10257543	0.96[EUR][1000 genomes]
rs10271157	0.94[ASN][1000 genomes]
rs10271184	0.86[ASN][1000 genomes]
rs10273725	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10279449	0.81[ASN][1000 genomes]
rs10435335	0.92[EUR][1000 genomes]
rs10499952	0.99[EUR][1000 genomes]
rs1100044	0.99[EUR][1000 genomes]
rs1100046	0.94[ASN][1000 genomes]
rs11514917	0.84[ASN][1000 genomes]
rs11543736	0.92[EUR][1000 genomes]
rs11970869	0.96[EUR][1000 genomes]
rs11972019	0.96[EUR][1000 genomes]
rs11972644	0.96[EUR][1000 genomes]
rs11973870	0.93[EUR][1000 genomes]
rs11978670	0.96[EUR][1000 genomes]
rs11978768	0.96[EUR][1000 genomes]
rs11978799	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11980643	0.90[EUR][1000 genomes]
rs11981980	0.83[ASN][1000 genomes]
rs11983456	0.93[EUR][1000 genomes]
rs11983521	0.93[EUR][1000 genomes]
rs12056296	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12532495	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12533386	0.99[EUR][1000 genomes]
rs12537977	0.96[ASN][1000 genomes]
rs12540384	0.96[EUR][1000 genomes]
rs12666764	0.93[EUR][1000 genomes]
rs12667218	0.93[EUR][1000 genomes]
rs12668434	0.88[ASN][1000 genomes]
rs12671803	0.95[EUR][1000 genomes]
rs13233521	0.90[ASN][1000 genomes]
rs13242493	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1541519	0.81[ASN][1000 genomes]
rs1608651	0.80[ASN][1000 genomes]
rs17136090	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17136137	0.96[EUR][1000 genomes]
rs2009503	0.98[EUR][1000 genomes]
rs2159022	0.96[EUR][1000 genomes]
rs2228686	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2411056	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2411059	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28856331	0.96[ASN][1000 genomes]
rs35479298	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3779029	0.93[EUR][1000 genomes]
rs41501847	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4296965	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4620204	0.90[ASN][1000 genomes]
rs4729860	0.81[ASN][1000 genomes]
rs56269620	0.86[ASN][1000 genomes]
rs56894117	0.93[EUR][1000 genomes]
rs56921864	0.96[EUR][1000 genomes]
rs57253646	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57350619	0.93[EUR][1000 genomes]
rs57368671	0.95[EUR][1000 genomes]
rs57545514	0.96[EUR][1000 genomes]
rs57616389	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57776797	0.93[EUR][1000 genomes]
rs58191643	0.96[EUR][1000 genomes]
rs58680618	0.90[EUR][1000 genomes]
rs58814323	0.81[EUR][1000 genomes]
rs59278165	0.96[EUR][1000 genomes]
rs59544295	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59709436	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60524601	0.93[EUR][1000 genomes]
rs60599650	0.93[EUR][1000 genomes]
rs61679881	0.96[EUR][1000 genomes]
rs6465876	0.87[ASN][1000 genomes]
rs6465877	0.96[EUR][1000 genomes]
rs6465878	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465879	0.95[EUR][1000 genomes]
rs6465880	0.94[ASN][1000 genomes]
rs6465882	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6465885	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6942855	0.96[EUR][1000 genomes]
rs6945369	0.93[EUR][1000 genomes]
rs6945997	0.84[AMR][1000 genomes]
rs6946773	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6947403	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949150	0.96[EUR][1000 genomes]
rs6951288	0.81[EUR][1000 genomes]
rs6953980	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6956781	0.96[EUR][1000 genomes]
rs6957434	0.96[EUR][1000 genomes]
rs6957771	0.99[EUR][1000 genomes]
rs6960428	0.89[ASN][1000 genomes]
rs6967389	0.93[EUR][1000 genomes]
rs6968713	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975388	0.80[EUR][1000 genomes]
rs6975451	0.96[EUR][1000 genomes]
rs6976005	0.93[EUR][1000 genomes]
rs6977145	0.96[EUR][1000 genomes]
rs73406284	0.96[EUR][1000 genomes]
rs73406302	0.96[EUR][1000 genomes]
rs73408204	0.96[EUR][1000 genomes]
rs73408250	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7779145	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7779618	0.96[EUR][1000 genomes]
rs7780981	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7789252	0.80[ASN][1000 genomes]
rs7794668	0.89[ASN][1000 genomes]
rs7796335	0.96[EUR][1000 genomes]
rs7800548	0.86[ASN][1000 genomes]
rs7804322	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847646	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847648	0.93[ASN][1000 genomes]
rs847649	0.92[ASN][1000 genomes]
rs847652	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs847656	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs847658	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs865865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869332	0.80[ASN][1000 genomes]
rs9690210	0.92[EUR][1000 genomes]
rs9718453	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
8	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517000-102549600	Weak transcription	Gastric	stomach
2	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:102522600-102549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:102537400-102541000	Weak transcription	K562	blood
5	chr7:102538400-102542400	Weak transcription	Fetal Kidney	kidney
6	chr7:102538400-102553200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:102539200-102551800	Weak transcription	Fetal Lung	lung
8	chr7:102539200-102553000	Weak transcription	Right Atrium	heart

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