Variant report

Variant	rs848953
Chromosome Location	chr7:78987768-78987769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10085854	0.80[ASN][1000 genomes]
rs10214949	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs10224707	0.93[CEU][hapmap]
rs10225318	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10238084	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10239869	0.91[CEU][hapmap]
rs10247922	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248584	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10248625	0.91[CEU][hapmap]
rs10256084	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258290	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10260696	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261439	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10263112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269542	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275975	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485936	1.00[JPT][hapmap]
rs1100310	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1155234	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972217	1.00[JPT][hapmap]
rs11980152	1.00[JPT][hapmap]
rs11980253	1.00[JPT][hapmap]
rs12670442	1.00[JPT][hapmap]
rs12670971	1.00[JPT][hapmap]
rs1358471	1.00[JPT][hapmap]
rs1406153	1.00[JPT][hapmap]
rs1406154	1.00[JPT][hapmap]
rs1528262	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1534492	1.00[JPT][hapmap]
rs1534493	1.00[JPT][hapmap]
rs1609273	1.00[JPT][hapmap]
rs1609276	1.00[JPT][hapmap]
rs16886457	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap]
rs16886549	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147873	1.00[JPT][hapmap]
rs17152041	1.00[JPT][hapmap]
rs17152051	1.00[JPT][hapmap]
rs17152063	1.00[JPT][hapmap]
rs17152076	1.00[JPT][hapmap]
rs17152125	1.00[JPT][hapmap]
rs17152224	1.00[JPT][hapmap]
rs17152238	1.00[JPT][hapmap]
rs17152245	1.00[JPT][hapmap]
rs17421940	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481134	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488042	1.00[JPT][hapmap]
rs17818755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918932	1.00[JPT][hapmap]
rs1997277	0.80[ASN][1000 genomes]
rs2190182	0.93[CEU][hapmap]
rs2214808	0.92[CEU][hapmap]
rs2364908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364920	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs28450541	0.80[ASN][1000 genomes]
rs28611031	0.80[ASN][1000 genomes]
rs28700941	0.80[ASN][1000 genomes]
rs4236606	0.92[CEU][hapmap]
rs4727839	1.00[JPT][hapmap]
rs4727840	1.00[JPT][hapmap]
rs4730758	1.00[JPT][hapmap]
rs4730816	0.93[CEU][hapmap]
rs4730818	0.93[CEU][hapmap]
rs4730820	0.93[CEU][hapmap]
rs56829360	0.80[ASN][1000 genomes]
rs61075638	0.80[ASN][1000 genomes]
rs62458985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458986	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458987	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458988	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458989	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458990	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466602	0.80[ASN][1000 genomes]
rs6466622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466638	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466639	0.91[CEU][hapmap]
rs6466640	0.92[CEU][hapmap]
rs6963068	1.00[JPT][hapmap]
rs6977556	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.80[ASN][1000 genomes]
rs7787904	1.00[JPT][hapmap]
rs7787956	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791667	0.93[CEU][hapmap]
rs7800314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803949	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs7806922	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810770	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7811441	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848913	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs848916	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848944	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464600	chr7:78981719-79030922	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv607663	chr7:78981719-79030922	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888513	chr7:78983840-79023504	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78982000-78992000	Weak transcription	NHLF	lung

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