Variant report

Variant	rs17549547
Chromosome Location	chr1:197034726-197034727
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	chr1:197026462..197029856-chr1:197031681..197034887,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514802	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17514816	1.00[AMR][1000 genomes]
rs17549514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549671	1.00[AMR][1000 genomes]
rs17549818	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17549873	0.91[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	0.91[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	0.91[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	0.91[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]
rs61264948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61278057	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6669388	0.91[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]
rs7513644	1.00[AMR][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	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545831	0.91[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	0.91[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	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
6	nsv873064	chr1:197008597-197035538	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873066	chr1:197028634-197034826	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197034000-197035200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:197034200-197034800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:197034200-197035200	Enhancers	Osteobl	bone
4	chr1:197034200-197035800	Enhancers	Fetal Heart	heart
5	chr1:197034400-197035000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:197034400-197036600	Active TSS	Liver	Liver
7	chr1:197034600-197035200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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