Variant report

Variant	rs7744045
Chromosome Location	chr6:1693449-1693450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17830412	0.90[AMR][1000 genomes]
rs4959148	0.93[EUR][1000 genomes]
rs4959594	0.93[EUR][1000 genomes]
rs55755623	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56042153	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62388267	0.92[AMR][1000 genomes]
rs62388268	0.92[AMR][1000 genomes]
rs62388303	0.90[AMR][1000 genomes]
rs62388304	0.90[AMR][1000 genomes]
rs62388305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6909392	0.90[AMR][1000 genomes]
rs6932087	0.81[AMR][1000 genomes]
rs6936424	0.83[AMR][1000 genomes]
rs7773671	0.85[EUR][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	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1015682	chr6:1661111-1717786	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538092	chr6:1661111-1717786	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv462611	chr6:1688391-1702106	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv600808	chr6:1688391-1702106	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1679400-1693600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:1679600-1695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:1681600-1699200	Weak transcription	Pancreas	Pancrea
5	chr6:1683000-1698600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:1686600-1700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:1686600-1700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:1686800-1701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:1687800-1695800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:1688000-1695800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:1688600-1706400	Weak transcription	Gastric	stomach
12	chr6:1690000-1701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:1690000-1715000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:1690400-1703200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:1693200-1693600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr6:1693200-1693800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr6:1693400-1701600	Strong transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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