Variant report

Variant	rs11120500
Chromosome Location	chr1:215299220-215299221
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215293174..215295658-chr1:215298040..215300883,2	K562	blood:
2	chr1:215290334..215292813-chr1:215297263..215299579,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10127521	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127656	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10746454	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746455	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779639	0.82[ASN][1000 genomes]
rs10779640	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10779642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779644	0.82[ASN][1000 genomes]
rs10779645	0.82[ASN][1000 genomes]
rs10779646	0.82[ASN][1000 genomes]
rs10779647	0.82[ASN][1000 genomes]
rs10779649	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779650	0.96[ASN][1000 genomes]
rs10779651	0.96[ASN][1000 genomes]
rs10779652	0.88[ASN][1000 genomes]
rs10864150	0.89[AMR][1000 genomes]
rs10864152	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10864153	0.81[ASN][1000 genomes]
rs10864154	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10864157	0.84[ASN][1000 genomes]
rs11120495	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11120496	0.83[ASN][1000 genomes]
rs11120497	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120498	0.84[ASN][1000 genomes]
rs11120499	0.82[ASN][1000 genomes]
rs11120506	0.82[ASN][1000 genomes]
rs11120508	0.82[ASN][1000 genomes]
rs11120511	0.82[ASN][1000 genomes]
rs11120513	0.82[ASN][1000 genomes]
rs11120516	0.82[ASN][1000 genomes]
rs1112101	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12031308	0.82[ASN][1000 genomes]
rs12061916	0.84[ASN][1000 genomes]
rs12062098	0.90[ASN][1000 genomes]
rs12068734	0.82[ASN][1000 genomes]
rs12120091	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12121761	0.82[ASN][1000 genomes]
rs12135076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138497	0.95[ASN][1000 genomes]
rs12141874	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12143339	0.82[ASN][1000 genomes]
rs12410041	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411068	0.98[ASN][1000 genomes]
rs12567520	0.97[ASN][1000 genomes]
rs12742137	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1361340	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416647	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1578137	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2363554	0.82[ASN][1000 genomes]
rs2363556	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363558	0.91[AMR][1000 genomes]
rs2363559	0.91[AMR][1000 genomes]
rs2363560	0.90[AMR][1000 genomes]
rs2363564	0.81[ASN][1000 genomes]
rs2363565	0.82[ASN][1000 genomes]
rs2363566	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363567	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2885812	0.82[ASN][1000 genomes]
rs2885813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2885815	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3931584	0.81[ASN][1000 genomes]
rs3931585	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4262516	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4269745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4300189	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4375232	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4411107	0.84[ASN][1000 genomes]
rs4428856	0.84[ASN][1000 genomes]
rs4497183	0.82[ASN][1000 genomes]
rs4509552	0.82[ASN][1000 genomes]
rs4509553	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4531266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4548407	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4571941	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4573492	0.84[ASN][1000 genomes]
rs4607848	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655276	0.82[ASN][1000 genomes]
rs4655277	0.96[ASN][1000 genomes]
rs4655278	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655391	0.82[ASN][1000 genomes]
rs4655392	0.82[ASN][1000 genomes]
rs4655393	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655394	0.95[ASN][1000 genomes]
rs4655395	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61818297	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61818299	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61818320	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61818328	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6657313	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6662353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666828	0.83[ASN][1000 genomes]
rs6667764	0.81[ASN][1000 genomes]
rs6672978	0.81[ASN][1000 genomes]
rs6673739	0.95[ASN][1000 genomes]
rs6675926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6678758	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683041	0.84[ASN][1000 genomes]
rs6684084	0.96[ASN][1000 genomes]
rs6688713	0.91[AMR][1000 genomes]
rs6695343	0.87[ASN][1000 genomes]
rs6695967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735359	0.98[ASN][1000 genomes]
rs7410928	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7417100	0.82[ASN][1000 genomes]
rs7513709	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7516689	0.91[AMR][1000 genomes]
rs7540029	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7541543	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7547572	0.95[ASN][1000 genomes]
rs7547655	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7549136	0.84[ASN][1000 genomes]
rs7551415	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7555013	0.84[AMR][1000 genomes]
rs7555727	0.83[AMR][1000 genomes]
rs9793382	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9793690	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215288800-215306600	Weak transcription	NHLF	lung
2	chr1:215291600-215300400	Weak transcription	Osteobl	bone
3	chr1:215294000-215299600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:215294000-215301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:215297200-215299800	Strong transcription	NHDF-Ad	bronchial
6	chr1:215298600-215303200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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