Variant report

Variant	rs17080912
Chromosome Location	chr6:119578310-119578311
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	chr6:119571388..119574605-chr6:119574866..119578406,5	K562	blood:
2	chr6:119577142..119579813-chr6:119669541..119672184,2	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10484999	0.86[ASN][1000 genomes]
rs10485000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10485002	0.86[ASN][1000 genomes]
rs11153809	0.89[CHB][hapmap]
rs17052761	0.86[ASN][1000 genomes]
rs17080956	0.86[ASN][1000 genomes]
rs17080961	0.86[ASN][1000 genomes]
rs17080974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17080980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17080995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17081019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17081022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17081026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17081029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17081031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17081044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2038769	0.89[CHB][hapmap]
rs2299885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3756942	1.00[JPT][hapmap]
rs3778105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3778106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3778108	0.86[ASN][1000 genomes]
rs3778109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3798611	0.94[ASN][1000 genomes]
rs3798613	0.94[ASN][1000 genomes]
rs3798615	0.94[ASN][1000 genomes]
rs3798617	0.98[ASN][1000 genomes]
rs3798619	0.90[ASN][1000 genomes]
rs3798625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3798626	0.85[ASN][1000 genomes]
rs3798627	0.86[ASN][1000 genomes]
rs3798628	0.86[ASN][1000 genomes]
rs3798629	0.86[ASN][1000 genomes]
rs3798630	0.86[ASN][1000 genomes]
rs3798632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3798633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3798634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3798635	0.86[ASN][1000 genomes]
rs3798637	0.86[ASN][1000 genomes]
rs3798638	0.86[ASN][1000 genomes]
rs3798639	0.86[ASN][1000 genomes]
rs3798640	0.86[ASN][1000 genomes]
rs3798641	0.86[ASN][1000 genomes]
rs3798642	0.86[ASN][1000 genomes]
rs3798643	0.86[ASN][1000 genomes]
rs3798645	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3798646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3798647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3823001	0.86[ASN][1000 genomes]
rs3823004	1.00[JPT][hapmap]
rs3823005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57560532	0.86[ASN][1000 genomes]
rs57606082	0.86[ASN][1000 genomes]
rs57760251	0.94[ASN][1000 genomes]
rs58157033	0.86[ASN][1000 genomes]
rs58263645	0.86[ASN][1000 genomes]
rs59771009	0.86[ASN][1000 genomes]
rs60924800	0.94[ASN][1000 genomes]
rs60944461	0.86[ASN][1000 genomes]
rs61362597	0.94[ASN][1000 genomes]
rs61534068	0.92[ASN][1000 genomes]
rs6915559	0.89[CHB][hapmap]
rs6915947	0.89[CHB][hapmap]
rs6918093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6923755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6929286	0.86[ASN][1000 genomes]
rs715373	0.89[CHB][hapmap]
rs715374	0.89[CHB][hapmap]
rs7741003	0.89[CHB][hapmap]
rs7743195	0.92[ASN][1000 genomes]
rs7745631	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7753315	0.89[CHB][hapmap]
rs7761480	0.92[ASN][1000 genomes]
rs947589	0.83[ASN][1000 genomes]
rs9489681	0.89[CHB][hapmap]
rs9489686	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119558800-119578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:119558800-119578600	Weak transcription	Fetal Thymus	thymus
4	chr6:119558800-119582200	Weak transcription	Colonic Mucosa	Colon
5	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
8	chr6:119558800-119602000	Weak transcription	Gastric	stomach
9	chr6:119562200-119579400	Weak transcription	NHEK	skin
10	chr6:119562600-119580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:119562600-119580000	Weak transcription	Small Intestine	intestine
12	chr6:119562800-119582200	Weak transcription	Pancreas	Pancrea
13	chr6:119562800-119583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
15	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:119563400-119588000	Weak transcription	Fetal Kidney	kidney
17	chr6:119563400-119590200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:119566800-119582600	Weak transcription	Fetal Lung	lung
19	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:119569000-119581600	Weak transcription	NHDF-Ad	bronchial
21	chr6:119569000-119583000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:119569200-119589800	Weak transcription	Fetal Intestine Large	intestine
23	chr6:119569200-119590000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:119569200-119590400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:119569200-119591600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:119569200-119591600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:119569400-119581400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:119569400-119590000	Weak transcription	Placenta	Placenta
29	chr6:119569400-119590200	Weak transcription	Left Ventricle	heart
30	chr6:119569400-119591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:119569800-119582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:119570000-119580000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:119571000-119581400	Weak transcription	Adipose Nuclei	Adipose
34	chr6:119571600-119583800	Weak transcription	Primary B cells from cord blood	blood
35	chr6:119573000-119580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:119574200-119583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:119574200-119589800	Weak transcription	Fetal Intestine Small	intestine
38	chr6:119574800-119581400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:119576000-119578800	Enhancers	Primary T cells from cord blood	blood
40	chr6:119576400-119578800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:119576800-119578600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:119576800-119580200	Weak transcription	Liver	Liver
43	chr6:119577000-119583800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:119577000-119583800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:119577000-119588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:119577400-119578400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:119577600-119578600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:119577600-119578800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:119577800-119579000	Genic enhancers	HepG2	liver
50	chr6:119577800-119580200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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