Variant report

Variant	rs1965988
Chromosome Location	chr8:11622521-11622522
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11614600..11617057-chr8:11621350..11623693,3	K562	blood:
2	chr8:11613933..11616620-chr8:11622009..11623693,2	K562	blood:

Variant related genes	Relation type
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1017803	1.00[AMR][1000 genomes]
rs1874545	1.00[AMR][1000 genomes]
rs2088347	1.00[AMR][1000 genomes]
rs2252071	1.00[AMR][1000 genomes]
rs2645436	1.00[AMR][1000 genomes]
rs2645439	1.00[AMR][1000 genomes]
rs2645451	1.00[AMR][1000 genomes]
rs2740442	1.00[AMR][1000 genomes]
rs804255	1.00[AMR][1000 genomes]
rs804257	1.00[AMR][1000 genomes]
rs804259	1.00[AMR][1000 genomes]
rs804291	1.00[AMR][1000 genomes]
rs804294	1.00[AMR][1000 genomes]
rs922480	1.00[AMR][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	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	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
2	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
3	chr8:11617000-11622800	Weak transcription	Fetal Heart	heart
4	chr8:11617000-11623000	Weak transcription	Placenta	Placenta
5	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:11617400-11622800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:11617400-11623200	Weak transcription	HepG2	liver
8	chr8:11617400-11626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:11618000-11626000	Weak transcription	Pancreas	Pancrea
12	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
13	chr8:11618400-11623000	Weak transcription	Liver	Liver
14	chr8:11619600-11623200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:11619600-11623200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:11619600-11623200	Weak transcription	Primary B cells from cord blood	blood
17	chr8:11619600-11626800	Weak transcription	Gastric	stomach
18	chr8:11620200-11622800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:11620200-11622800	Weak transcription	Ovary	ovary
20	chr8:11620200-11623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:11620400-11622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:11620400-11622800	Weak transcription	HSMMtube	muscle
23	chr8:11620400-11622800	Weak transcription	K562	blood
24	chr8:11620400-11622800	Weak transcription	Osteobl	bone
25	chr8:11620400-11623000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11620400-11623000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:11620400-11623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:11620400-11623200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11620400-11623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:11620400-11623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:11620400-11623200	Weak transcription	A549	lung
32	chr8:11620400-11623200	Weak transcription	HMEC	breast
33	chr8:11620400-11623200	Weak transcription	NHLF	lung
34	chr8:11620400-11626600	Weak transcription	Right Ventricle	heart
35	chr8:11620600-11623000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:11620600-11623200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:11620600-11623200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:11620800-11622800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:11620800-11622800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:11621000-11622800	Weak transcription	HUVEC	blood vessel
41	chr8:11621000-11623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:11621000-11623200	Weak transcription	NH-A	brain
43	chr8:11621200-11626600	Weak transcription	Fetal Intestine Small	intestine
44	chr8:11621600-11623200	Enhancers	NHDF-Ad	bronchial
45	chr8:11621600-11624800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:11622000-11623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:11622000-11623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:11622000-11623800	Enhancers	HSMM	muscle
49	chr8:11622200-11622600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:11622200-11622600	Weak transcription	NHEK	skin

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