Variant report

Variant	rs149560117
Chromosome Location	chr8:11596857-11596858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11591235..11593958-chr8:11596289..11599028,2	K562	blood:
2	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:
3	chr8:11591065..11593958-chr8:11596215..11599028,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv3478857	chr8:11596798-11597371	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv471715	chr8:11596835-11597374	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3478856	chr8:11596846-11597341	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
2	chr8:11593400-11597800	Enhancers	Placenta	Placenta
3	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
4	chr8:11593600-11598000	Enhancers	Left Ventricle	heart
5	chr8:11593600-11599200	Enhancers	Liver	Liver
6	chr8:11593800-11597200	Enhancers	Right Ventricle	heart
7	chr8:11594600-11597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:11594600-11597600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:11595200-11597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11595200-11598000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11595200-11599000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:11595200-11600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:11595400-11600600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:11596000-11597600	Enhancers	Stomach Mucosa	stomach
15	chr8:11596200-11597400	Enhancers	Gastric	stomach
16	chr8:11596200-11597800	Strong transcription	HepG2	liver
17	chr8:11596200-11599200	Enhancers	Right Atrium	heart
18	chr8:11596200-11604000	Enhancers	Pancreas	Pancrea
19	chr8:11596400-11597200	Enhancers	Ovary	ovary
20	chr8:11596400-11599200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:11596800-11597200	Active TSS	K562	blood

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