Variant report

Variant	rs3005497
Chromosome Location	chr6:74576040-74576041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12192907	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3005495	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3012550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57859755	0.90[ASN][1000 genomes]
rs72961246	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526236	chr6:74563545-74662900	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv14513	chr6:74564769-74614549	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757177	chr6:74567610-74625056	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2759441	chr6:74567610-74625056	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1025650	chr6:74567731-74611185	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv34305	chr6:74571797-74675280	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv32624	chr6:74574221-74579804	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:74562000-74577800	Weak transcription	Aorta	Aorta
3	chr6:74565600-74580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:74565800-74582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:74567600-74586200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:74568800-74582400	Weak transcription	NHDF-Ad	bronchial
7	chr6:74572200-74580200	Weak transcription	HMEC	breast
8	chr6:74573800-74582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:74576000-74576200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:74576000-74576200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr6:74576000-74576200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:74576000-74576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:74576000-74576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:74576000-74576400	Enhancers	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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