Variant report

Variant	rs6699161
Chromosome Location	chr1:215276399-215276400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10127656	0.85[CHB][hapmap];0.90[CHD][hapmap]
rs10746454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10746455	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs10779639	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10779640	0.85[CHB][hapmap]
rs10779642	0.95[CHB][hapmap]
rs10779643	0.95[CHB][hapmap]
rs10779644	0.95[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779645	0.95[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10779646	0.95[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779647	0.87[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779648	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10779649	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs10779650	0.87[CEU][hapmap];0.95[CHB][hapmap]
rs10779651	0.87[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.81[TSI][hapmap]
rs10864150	0.80[CHB][hapmap]
rs10864152	0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10864153	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11120495	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs11120496	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11120498	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11120499	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11120506	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120508	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120511	0.95[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120513	0.88[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs1112101	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs12031308	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12039875	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12061916	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12068734	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12120091	0.84[CHB][hapmap]
rs12121761	0.96[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12135076	0.95[CHB][hapmap]
rs12141874	0.95[CHB][hapmap]
rs12143339	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes]
rs12410041	0.95[CHB][hapmap]
rs12411068	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs12567520	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs1339405	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs1339406	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs1361340	0.87[CHD][hapmap]
rs1416647	0.95[CHB][hapmap]
rs2363554	0.94[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2363556	0.95[CHB][hapmap]
rs2363557	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs2363564	0.82[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2363565	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes]
rs2363566	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs2363567	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs2885812	0.82[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2885815	0.85[CHB][hapmap]
rs3931584	0.82[AMR][1000 genomes]
rs4262516	0.98[ASN][1000 genomes]
rs4271184	0.82[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4300189	0.95[CHB][hapmap]
rs4303048	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs4375232	0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.96[ASN][1000 genomes]
rs4411107	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4428856	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4497183	0.88[ASW][hapmap];0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.82[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4509552	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4509553	0.85[CHB][hapmap]
rs4531266	0.89[CHB][hapmap]
rs4556330	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4573492	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4634877	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4655276	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4655277	0.87[CEU][hapmap];0.95[CHB][hapmap]
rs4655391	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4655392	0.96[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4655393	0.95[CHB][hapmap]
rs4655394	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4655395	0.95[CHB][hapmap]
rs61818297	0.82[ASN][1000 genomes]
rs61818299	0.86[ASN][1000 genomes]
rs6657313	0.95[CHB][hapmap]
rs6662353	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs6666828	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6667764	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6672978	1.00[ASW][hapmap];0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes]
rs6673739	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs6675926	0.95[CHB][hapmap]
rs6683041	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6684084	0.87[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.81[TSI][hapmap]
rs6688713	0.80[CHB][hapmap]
rs6696333	0.95[CHB][hapmap]
rs72735337	0.84[ASN][1000 genomes]
rs7410928	0.83[ASN][1000 genomes]
rs7417100	0.95[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7513709	0.85[CHB][hapmap]
rs7516689	0.80[CHB][hapmap]
rs7541543	0.85[CHB][hapmap];0.90[CHD][hapmap]
rs7547572	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7547655	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7549136	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:215265400-215280800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:215269600-215277600	Weak transcription	Fetal Brain Male	brain
5	chr1:215270600-215277200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215275200-215276600	Weak transcription	Osteobl	bone
7	chr1:215276000-215276600	Enhancers	Brain Germinal Matrix	brain
8	chr1:215276000-215276600	Genic enhancers	NHDF-Ad	bronchial
9	chr1:215276200-215276400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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