Variant report

Variant	rs12061916
Chromosome Location	chr1:215292454-215292455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215290334..215292813-chr1:215297263..215299579,2	K562	blood:
2	chr1:215291146..215292906-chr1:215309606..215312373,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10127521	0.84[ASN][1000 genomes]
rs10127656	0.98[ASN][1000 genomes]
rs10746455	0.81[ASN][1000 genomes]
rs10779639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779640	0.98[ASN][1000 genomes]
rs10779642	0.82[ASN][1000 genomes]
rs10779643	0.82[ASN][1000 genomes]
rs10779644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779645	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779646	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779647	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779648	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779649	0.83[ASN][1000 genomes]
rs10779650	0.83[ASN][1000 genomes]
rs10779651	0.83[ASN][1000 genomes]
rs10864153	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10864154	0.98[ASN][1000 genomes]
rs11120495	0.82[ASN][1000 genomes]
rs11120496	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120498	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120500	0.84[ASN][1000 genomes]
rs11120506	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120508	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120513	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120516	0.97[ASN][1000 genomes]
rs11120517	0.95[ASN][1000 genomes]
rs12031308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039875	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12068734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12120091	0.96[ASN][1000 genomes]
rs12121761	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12135076	0.83[ASN][1000 genomes]
rs12138497	0.84[ASN][1000 genomes]
rs12141874	0.82[ASN][1000 genomes]
rs12143339	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12410041	0.84[ASN][1000 genomes]
rs12411068	0.82[ASN][1000 genomes]
rs12567520	0.83[ASN][1000 genomes]
rs12742137	0.98[ASN][1000 genomes]
rs1339405	0.95[ASN][1000 genomes]
rs1339406	0.95[ASN][1000 genomes]
rs1361340	0.82[ASN][1000 genomes]
rs2363554	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363556	0.83[ASN][1000 genomes]
rs2363557	0.82[ASN][1000 genomes]
rs2363564	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363565	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363566	0.82[ASN][1000 genomes]
rs2363567	0.82[ASN][1000 genomes]
rs2885812	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2885813	0.82[ASN][1000 genomes]
rs2885815	0.96[ASN][1000 genomes]
rs3931584	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4269745	0.83[ASN][1000 genomes]
rs4271184	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4300189	0.84[ASN][1000 genomes]
rs4303048	0.82[ASN][1000 genomes]
rs4394614	0.95[ASN][1000 genomes]
rs4411107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428856	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440833	0.95[ASN][1000 genomes]
rs4497183	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509552	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509553	0.96[ASN][1000 genomes]
rs4531266	0.98[ASN][1000 genomes]
rs4556330	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4571941	0.95[ASN][1000 genomes]
rs4573492	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607848	0.84[ASN][1000 genomes]
rs4634877	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4655276	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4655277	0.83[ASN][1000 genomes]
rs4655278	0.82[ASN][1000 genomes]
rs4655391	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4655392	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4655393	0.83[ASN][1000 genomes]
rs4655394	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4655395	0.82[ASN][1000 genomes]
rs61818320	0.84[ASN][1000 genomes]
rs61818328	0.82[ASN][1000 genomes]
rs6657313	0.82[ASN][1000 genomes]
rs6662353	0.84[ASN][1000 genomes]
rs6666828	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6667764	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6672978	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6673739	0.84[ASN][1000 genomes]
rs6675926	0.82[ASN][1000 genomes]
rs6678758	0.82[ASN][1000 genomes]
rs6683041	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684084	0.83[ASN][1000 genomes]
rs6695343	0.80[EUR][1000 genomes]
rs6695967	0.82[ASN][1000 genomes]
rs6696333	0.84[ASN][1000 genomes]
rs6699161	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72735359	0.82[ASN][1000 genomes]
rs7417100	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7513709	0.98[ASN][1000 genomes]
rs7541543	0.98[ASN][1000 genomes]
rs7547572	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7549136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551415	0.92[ASN][1000 genomes]
rs9793695	0.89[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215287000-215293800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:215288200-215294000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:215288800-215306600	Weak transcription	NHLF	lung
4	chr1:215289400-215293000	Weak transcription	Hela-S3	cervix
5	chr1:215290000-215293600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:215290200-215293400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:215290400-215292600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:215290800-215292600	Genic enhancers	NHDF-Ad	bronchial
9	chr1:215291600-215292600	Enhancers	Fetal Brain Male	brain
10	chr1:215291600-215292600	Weak transcription	Fetal Brain Female	brain
11	chr1:215291600-215300400	Weak transcription	Osteobl	bone
12	chr1:215292200-215292800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:215292400-215292800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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