Variant report

Variant	rs11993825
Chromosome Location	chr8:11594201-11594202
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11594028..11596357-chr8:11603341..11605570,2	K562	blood:
2	chr8:11587952..11589513-chr8:11592423..11595406,2	K562	blood:
3	chr8:11593617..11594422-chr8:11604399..11605223,2	K562	blood:
4	chr8:11583078..11587577-chr8:11589128..11594677,6	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10105409	1.00[AMR][1000 genomes]
rs10112464	1.00[AMR][1000 genomes]
rs2409812	1.00[AMR][1000 genomes]
rs28394863	1.00[AMR][1000 genomes]
rs57225181	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265429	1.00[AMR][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	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
2	chr8:11593400-11594600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr8:11593400-11595200	Enhancers	Fetal Intestine Large	intestine
4	chr8:11593400-11597800	Enhancers	Placenta	Placenta
5	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
6	chr8:11593600-11594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:11593600-11594400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:11593600-11595000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:11593600-11595200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:11593600-11595200	Enhancers	Small Intestine	intestine
11	chr8:11593600-11596200	Enhancers	Ovary	ovary
12	chr8:11593600-11598000	Enhancers	Left Ventricle	heart
13	chr8:11593600-11599200	Enhancers	Liver	Liver
14	chr8:11593800-11594400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr8:11593800-11594400	Flanking Active TSS	K562	blood
16	chr8:11593800-11595200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:11593800-11595200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr8:11593800-11595200	Enhancers	Pancreas	Pancrea
19	chr8:11593800-11597200	Enhancers	Right Ventricle	heart
20	chr8:11594000-11594400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:11594000-11594400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr8:11594000-11594400	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:11594000-11594400	Enhancers	Fetal Kidney	kidney
24	chr8:11594000-11594400	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:11594000-11594600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:11594000-11594600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:11594000-11594600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:11594000-11594600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:11594000-11594600	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:11594000-11594600	Enhancers	HepG2	liver
31	chr8:11594000-11594800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:11594000-11595000	Enhancers	Gastric	stomach
33	chr8:11594000-11595400	Enhancers	Colon Smooth Muscle	Colon
34	chr8:11594000-11595600	Enhancers	Stomach Mucosa	stomach
35	chr8:11594200-11594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:11594200-11594400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:11594200-11594400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:11594200-11594400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:11594200-11594400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:11594200-11594400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11594200-11595200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:11594200-11595200	Enhancers	Right Atrium	heart
43	chr8:11594200-11595400	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr8:11594200-11595400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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