Variant report

Variant	rs17193809
Chromosome Location	chr6:29976312-29976313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29976194-29976392	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
HCG4P3	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11967305	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967533	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970651	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17186475	0.93[ASN][1000 genomes]
rs17187896	0.85[ASN][1000 genomes]
rs17194209	0.85[ASN][1000 genomes]
rs55702275	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55809494	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55829038	0.93[ASN][1000 genomes]
rs58015560	0.85[ASN][1000 genomes]
rs59387046	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61023635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61390694	0.85[ASN][1000 genomes]
rs6915431	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6921094	0.93[ASN][1000 genomes]
rs6929675	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73416648	0.93[ASN][1000 genomes]
rs73420413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73727624	0.93[ASN][1000 genomes]
rs9767125	0.83[AFR][1000 genomes]
rs9767139	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391180	chr6:29798321-29977430	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3373906	chr6:29884407-29977070	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2641340	chr6:29913287-29978544	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3378806	chr6:29913464-29978179	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3496792	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3496793	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv601475	chr6:29963179-29977973	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29974800-29981000	Weak transcription	Hela-S3	cervix
2	chr6:29974800-30002400	Weak transcription	Dnd41	blood
3	chr6:29975200-29976600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:29975200-30027800	Weak transcription	Aorta	Aorta
5	chr6:29975400-29978800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:29975400-29985200	Weak transcription	Lung	lung
7	chr6:29975600-29979200	Weak transcription	Ovary	ovary
8	chr6:29975600-29979200	Weak transcription	Pancreas	Pancrea
9	chr6:29975600-29985000	Weak transcription	Liver	Liver
10	chr6:29975600-29985200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:29975600-29987200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:29975600-29987600	Weak transcription	HepG2	liver
13	chr6:29975600-30027800	Weak transcription	Right Ventricle	heart
14	chr6:29975800-29976400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:29975800-29976400	Weak transcription	Spleen	Spleen
16	chr6:29975800-29986600	Weak transcription	Esophagus	oesophagus
17	chr6:29975800-30027800	Weak transcription	Gastric	stomach
18	chr6:29976200-29976400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:29976200-29986600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:29976200-29987800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:29976200-30001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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