Variant report

Variant	rs12143339
Chromosome Location	chr1:215333812-215333813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215329275..215331394-chr1:215332099..215334875,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127521	0.82[ASN][1000 genomes]
rs10127656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10746454	0.86[CHB][hapmap]
rs10746455	0.91[CHB][hapmap]
rs10779639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10779642	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs10779643	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs10779644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779646	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779648	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10779649	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10779650	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs10779651	0.83[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10864150	0.86[CHB][hapmap]
rs10864152	0.90[CHB][hapmap]
rs10864153	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864154	0.96[ASN][1000 genomes]
rs10864158	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11120495	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs11120496	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120498	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11120500	0.82[ASN][1000 genomes]
rs11120506	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120516	0.98[ASN][1000 genomes]
rs11120517	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1112101	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12031308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039875	0.96[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes]
rs12061916	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068734	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs12121761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12135076	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs12138497	0.85[ASN][1000 genomes]
rs12141874	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs12410041	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs12411068	0.85[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12567520	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12742137	0.96[ASN][1000 genomes]
rs1339405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1339406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1361340	0.84[ASN][1000 genomes]
rs1416647	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs1538547	0.86[CHB][hapmap]
rs1578137	0.81[ASN][1000 genomes]
rs2363554	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363556	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs2363557	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2363564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2363565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363566	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2363567	0.90[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs2885812	1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885813	0.84[ASN][1000 genomes]
rs2885815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3931584	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233309	0.85[CHB][hapmap]
rs4269745	0.83[ASN][1000 genomes]
rs4271184	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4300189	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs4303048	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4375232	0.80[CHB][hapmap];0.88[YRI][hapmap]
rs4394614	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4411107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4428856	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4440833	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4497183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509552	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs4531266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4556330	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4571941	0.93[ASN][1000 genomes]
rs4573492	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4607848	0.82[ASN][1000 genomes]
rs4634877	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs4655276	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655277	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs4655278	0.84[ASN][1000 genomes]
rs4655391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655393	0.91[CHB][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs4655394	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4655395	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs61818320	0.82[ASN][1000 genomes]
rs61818328	0.84[ASN][1000 genomes]
rs6540887	0.85[JPT][hapmap]
rs6657313	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs6662353	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs6666828	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6667764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6672978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6673739	0.80[CEU][hapmap];0.91[CHB][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs6675926	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs6678758	0.84[ASN][1000 genomes]
rs6683041	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6684084	0.83[CEU][hapmap];0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs6688713	0.85[CHB][hapmap]
rs6695343	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6695967	0.84[ASN][1000 genomes]
rs6696333	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs6699161	0.96[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes]
rs72735359	0.84[ASN][1000 genomes]
rs7417100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7516689	0.85[CHB][hapmap]
rs7541543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7547572	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7549136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7551415	0.94[ASN][1000 genomes]
rs9793695	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215333400-215334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:215333600-215334400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:215333600-215334400	Enhancers	Osteobl	bone
4	chr1:215333800-215334400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:215333800-215334400	Enhancers	NHDF-Ad	bronchial

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