Variant report

Variant	rs61264948
Chromosome Location	chr1:197003671-197003672
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196852522..196854884-chr1:197003323..197006250,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1034162	1.00[ASN][1000 genomes]
rs10429911	1.00[ASN][1000 genomes]
rs10732295	1.00[ASN][1000 genomes]
rs10732296	1.00[ASN][1000 genomes]
rs10737687	1.00[ASN][1000 genomes]
rs10754214	1.00[ASN][1000 genomes]
rs10754215	1.00[ASN][1000 genomes]
rs10801588	1.00[ASN][1000 genomes]
rs10801593	1.00[ASN][1000 genomes]
rs1332669	1.00[ASN][1000 genomes]
rs1412631	1.00[ASN][1000 genomes]
rs1571964	1.00[ASN][1000 genomes]
rs17514584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514816	1.00[AMR][1000 genomes]
rs17549514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549582	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549671	1.00[AMR][1000 genomes]
rs17549818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1759013	1.00[ASN][1000 genomes]
rs1794003	1.00[ASN][1000 genomes]
rs1953064	1.00[ASN][1000 genomes]
rs2151133	0.89[ASN][1000 genomes]
rs2151135	1.00[ASN][1000 genomes]
rs35897746	1.00[AMR][1000 genomes]
rs3891964	1.00[ASN][1000 genomes]
rs4556392	1.00[ASN][1000 genomes]
rs4915313	1.00[ASN][1000 genomes]
rs4915315	1.00[ASN][1000 genomes]
rs4915316	1.00[ASN][1000 genomes]
rs56660423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56912014	1.00[AMR][1000 genomes]
rs57960694	1.00[ASN][1000 genomes]
rs59560396	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59820773	1.00[AMR][1000 genomes]
rs5999	1.00[AMR][1000 genomes]
rs6000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6003	1.00[ASN][1000 genomes]
rs60769813	1.00[AMR][1000 genomes]
rs61117530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61172533	1.00[AMR][1000 genomes]
rs61249253	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61278057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62624968	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428388	1.00[AMR][1000 genomes]
rs6669374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6669388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6675840	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6677082	1.00[ASN][1000 genomes]
rs6679189	1.00[ASN][1000 genomes]
rs6700604	1.00[AMR][1000 genomes]
rs6701681	1.00[ASN][1000 genomes]
rs6702338	1.00[AMR][1000 genomes]
rs6702739	1.00[AMR][1000 genomes]
rs6703400	1.00[ASN][1000 genomes]
rs7411719	1.00[ASN][1000 genomes]
rs7520405	1.00[AMR][1000 genomes]
rs7528827	1.00[AMR][1000 genomes]
rs7534439	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7535814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7539363	1.00[AMR][1000 genomes]
rs7541429	1.00[ASN][1000 genomes]
rs7543584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546591	1.00[AMR][1000 genomes]
rs7549438	1.00[ASN][1000 genomes]
rs7554802	1.00[ASN][1000 genomes]
rs7554881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7554890	1.00[ASN][1000 genomes]
rs857020	1.00[ASN][1000 genomes]
rs857023	1.00[ASN][1000 genomes]
rs857026	1.00[ASN][1000 genomes]
rs9427663	1.00[AMR][1000 genomes]
rs9727516	1.00[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv34978	chr1:196733133-197011577	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv430158	chr1:196733133-197011577	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv430180	chr1:196739837-197007479	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1003573	chr1:196825211-197005106	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196999600-197003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:196999600-197003800	Weak transcription	HUVEC	blood vessel
3	chr1:197003000-197004800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:197003200-197004800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:197003400-197005000	Enhancers	NHDF-Ad	bronchial
6	chr1:197003600-197004000	Enhancers	NH-A	brain
7	chr1:197003600-197004800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:197003600-197004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:197003600-197004800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:197003600-197004800	Enhancers	HMEC	breast
11	chr1:197003600-197004800	Enhancers	NHEK	skin
12	chr1:197003600-197005000	Enhancers	A549	lung
13	chr1:197003600-197005000	Enhancers	Osteobl	bone

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