Variant report

Variant	rs1190792
Chromosome Location	chr6:131517901-131517902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10457568	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs10457569	0.81[AMR][1000 genomes]
rs1190790	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1190791	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1190793	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190804	0.86[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196463	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs12196504	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs12210171	1.00[JPT][hapmap]
rs12214638	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12215812	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1528865	0.86[JPT][hapmap]
rs1534624	0.86[JPT][hapmap]
rs1590356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1729533	0.86[JPT][hapmap]
rs17652219	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1923620	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs3777486	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs3777488	1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs3777490	0.81[AMR][1000 genomes]
rs4404789	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs6923644	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
2	chr6:131488200-131534800	Weak transcription	Gastric	stomach
3	chr6:131505000-131518800	Weak transcription	Thymus	Thymus
4	chr6:131505000-131521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:131505000-131521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:131505200-131522600	Weak transcription	HSMMtube	muscle
7	chr6:131505800-131534600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:131505800-131534800	Weak transcription	Pancreas	Pancrea
9	chr6:131506400-131520800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:131506600-131520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:131506600-131520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:131506600-131520600	Weak transcription	Spleen	Spleen
13	chr6:131506600-131520800	Weak transcription	Lung	lung
14	chr6:131506600-131523800	Weak transcription	HepG2	liver
15	chr6:131506600-131524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:131506600-131529800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:131506600-131532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:131506800-131518600	Weak transcription	Primary B cells from cord blood	blood
19	chr6:131506800-131551800	Weak transcription	Ovary	ovary
20	chr6:131507000-131520400	Weak transcription	Liver	Liver
21	chr6:131510400-131534800	Weak transcription	Small Intestine	intestine
22	chr6:131513000-131520800	Weak transcription	Aorta	Aorta
23	chr6:131513000-131520800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:131513000-131522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:131513000-131523000	Weak transcription	Placenta	Placenta
26	chr6:131513200-131520600	Weak transcription	Left Ventricle	heart
27	chr6:131513200-131526400	Weak transcription	Fetal Intestine Small	intestine
28	chr6:131513200-131536400	Weak transcription	Esophagus	oesophagus
29	chr6:131513400-131520600	Weak transcription	Fetal Stomach	stomach
30	chr6:131513800-131520200	Weak transcription	Adipose Nuclei	Adipose
31	chr6:131514400-131519800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:131514400-131529800	Weak transcription	Brain Germinal Matrix	brain
33	chr6:131514400-131541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:131514600-131520600	Weak transcription	Fetal Lung	lung
35	chr6:131514600-131521200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:131514800-131520600	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:131516000-131519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:131516400-131520600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:131516600-131521200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:131517000-131520800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:131517800-131519600	Enhancers	Dnd41	blood

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