Variant report

Variant	rs17506128
Chromosome Location	chr8:119096352-119096353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119089659..119092466-chr8:119095796..119097306,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]
rs17505821	1.00[YRI][hapmap]
rs17505924	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17506086	1.00[YRI][hapmap]
rs17506142	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
2	chr8:119078000-119099000	Weak transcription	Dnd41	blood
3	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
4	chr8:119087600-119099200	Weak transcription	Pancreas	Pancrea
5	chr8:119087600-119101800	Weak transcription	Fetal Thymus	thymus
6	chr8:119087800-119098600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:119088000-119098400	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:119088000-119100200	Weak transcription	Aorta	Aorta
9	chr8:119088200-119096600	Weak transcription	Left Ventricle	heart
10	chr8:119088200-119102000	Weak transcription	Lung	lung
11	chr8:119088200-119102000	Weak transcription	Right Ventricle	heart
12	chr8:119088800-119099200	Weak transcription	Psoas Muscle	Psoas
13	chr8:119089200-119100400	Weak transcription	Fetal Stomach	stomach
14	chr8:119089600-119097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:119089600-119098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:119089600-119098600	Weak transcription	Ovary	ovary
17	chr8:119089600-119100400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:119089800-119102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:119090000-119099200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:119090800-119102000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:119091800-119098600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:119092000-119097400	Genic enhancers	Osteobl	bone
23	chr8:119092200-119099200	Weak transcription	Fetal Intestine Large	intestine
24	chr8:119092400-119098200	Weak transcription	Fetal Lung	lung
25	chr8:119092400-119098200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:119092400-119100400	Weak transcription	HMEC	breast
27	chr8:119092400-119102000	Weak transcription	Gastric	stomach
28	chr8:119092400-119104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:119092600-119097000	Weak transcription	HUVEC	blood vessel
30	chr8:119092600-119098600	Weak transcription	NHEK	skin
31	chr8:119092600-119099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:119092600-119100800	Weak transcription	HSMM	muscle
33	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:119092800-119100200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:119093200-119099200	Weak transcription	Stomach Mucosa	stomach
36	chr8:119093200-119100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:119093400-119097000	Weak transcription	NH-A	brain
38	chr8:119093400-119098600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:119093600-119097200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:119093600-119099400	Weak transcription	A549	lung
41	chr8:119093800-119096400	Enhancers	NHDF-Ad	bronchial
42	chr8:119093800-119096800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:119093800-119102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:119094000-119098600	Weak transcription	Small Intestine	intestine
45	chr8:119094000-119100000	Weak transcription	Fetal Intestine Small	intestine
46	chr8:119094000-119101000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:119094200-119096600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:119094200-119096600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:119094200-119098800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:119094200-119098800	Weak transcription	Duodenum Mucosa	Duodenum

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