Variant report

Variant	rs7191249
Chromosome Location	chr16:70669268-70669269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11865804	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11866403	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12596070	0.80[EUR][1000 genomes]
rs12596475	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598248	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12598251	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12598456	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12598945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598955	0.87[ASN][1000 genomes]
rs12919296	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12919451	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12920334	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12920529	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12923477	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12923630	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12923637	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12924304	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12925493	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12929463	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12929508	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12935541	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33998678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34426756	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34644948	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34692833	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34811595	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34881169	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35283920	0.82[EUR][1000 genomes]
rs35285555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35290416	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35381200	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35437297	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35794088	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36097154	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813905	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985413	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985414	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985415	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985546	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985550	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985551	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985552	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985553	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55872380	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56220651	0.96[ASN][1000 genomes]
rs57738457	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61170208	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68049363	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71401818	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7192723	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7198170	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8060584	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8061329	0.98[ASN][1000 genomes]
rs9933834	0.84[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70666600-70669400	Enhancers	HepG2	liver
3	chr16:70668600-70669600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:70668600-70669600	Enhancers	NHLF	lung
5	chr16:70668600-70670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:70668600-70670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70668600-70670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:70668800-70669400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr16:70668800-70669400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr16:70668800-70669400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:70668800-70669600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:70668800-70669600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:70669000-70669400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr16:70669000-70669400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:70669000-70669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:70669000-70669400	Enhancers	HSMM	muscle
17	chr16:70669000-70669600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr16:70669000-70669600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr16:70669000-70669600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr16:70669000-70669600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:70669000-70669600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:70669000-70669600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:70669000-70669600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:70669000-70669600	Enhancers	Colon Smooth Muscle	Colon
25	chr16:70669000-70669600	Enhancers	Fetal Stomach	stomach
26	chr16:70669000-70669600	Enhancers	HMEC	breast
27	chr16:70669000-70669600	Enhancers	HSMMtube	muscle
28	chr16:70669000-70670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:70669000-70670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:70669000-70670200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:70669000-70670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:70669000-70670600	Enhancers	Aorta	Aorta
33	chr16:70669200-70669400	Enhancers	Esophagus	oesophagus
34	chr16:70669200-70669600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:70669200-70669600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:70669200-70669600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr16:70669200-70669600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:70669200-70669600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:70669200-70669600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr16:70669200-70669600	Enhancers	Fetal Kidney	kidney
41	chr16:70669200-70669600	Enhancers	Ovary	ovary
42	chr16:70669200-70669600	Enhancers	Right Atrium	heart
43	chr16:70669200-70669600	Flanking Active TSS	HUVEC	blood vessel
44	chr16:70669200-70669600	Flanking Active TSS	NH-A	brain
45	chr16:70669200-70669600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr16:70669200-70669600	Enhancers	NHEK	skin
47	chr16:70669200-70669600	Flanking Active TSS	Osteobl	bone
48	chr16:70669200-70670600	Strong transcription	Fetal Intestine Small	intestine

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