Variant report

Variant	rs6740368
Chromosome Location	chr2:127994333-127994334
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	chr2:127975205..127977314-chr2:127992465..127995136,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10169028	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10178188	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195774	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206392	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211382	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10221754	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10439213	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10439214	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10451530	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1128974	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1129121	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13385611	0.88[ASN][1000 genomes]
rs13406313	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13421256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424947	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13429050	0.93[EUR][1000 genomes]
rs13431911	0.93[EUR][1000 genomes]
rs1604817	0.86[ASN][1000 genomes]
rs1607437	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271026	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755310	0.93[EUR][1000 genomes]
rs4150448	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4150487	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4150507	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150512	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150515	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536600	0.86[ASN][1000 genomes]
rs4662714	0.86[ASN][1000 genomes]
rs55826634	0.84[EUR][1000 genomes]
rs56276844	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57011781	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57547812	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57878090	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59283013	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59306090	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60892754	0.93[AFR][1000 genomes]
rs6430934	0.86[ASN][1000 genomes]
rs6710541	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6711086	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6727155	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740067	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743815	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72956480	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72956485	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964335	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72964338	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964344	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964352	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72964361	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7564189	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7584829	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878461	0.84[EUR][1000 genomes]
rs908787	0.84[EUR][1000 genomes]
rs9808452	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127984600-128012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:127989400-128013000	Weak transcription	Pancreas	Pancrea

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