Variant report

Variant	rs71489916
Chromosome Location	chr11:108595396-108595397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10502103	0.82[ASN][1000 genomes]
rs10749924	0.96[ASN][1000 genomes]
rs10749925	0.96[ASN][1000 genomes]
rs11828110	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12574567	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574721	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12574758	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12575278	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12577382	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577980	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12785398	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12785439	0.86[ASN][1000 genomes]
rs12786616	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794048	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794597	0.82[ASN][1000 genomes]
rs12795663	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12800516	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12800726	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12801974	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802313	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12803616	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12808060	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12808674	0.83[ASN][1000 genomes]
rs1462787	0.88[ASN][1000 genomes]
rs1482268	0.97[ASN][1000 genomes]
rs17108571	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17108579	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17108608	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17108703	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2061681	0.86[ASN][1000 genomes]
rs2553749	0.81[ASN][1000 genomes]
rs2553750	0.81[ASN][1000 genomes]
rs2553751	0.82[ASN][1000 genomes]
rs2615727	0.86[ASN][1000 genomes]
rs2615756	0.83[ASN][1000 genomes]
rs2726885	0.88[ASN][1000 genomes]
rs2726896	0.81[ASN][1000 genomes]
rs28736339	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34138098	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34180595	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34350110	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34354308	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34451436	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34593113	0.82[AMR][1000 genomes]
rs34805458	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34848528	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34942750	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35085871	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35244070	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35430545	0.84[ASN][1000 genomes]
rs35525430	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35754206	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35777838	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36006135	0.82[ASN][1000 genomes]
rs36034048	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36043878	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57014838	0.82[ASN][1000 genomes]
rs57484308	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107825	0.94[ASN][1000 genomes]
rs71489913	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71489918	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489919	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71489922	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71489925	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs898972	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970162	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970164	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108564800-108595400	Weak transcription	Hela-S3	cervix
2	chr11:108575400-108599400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:108577600-108604400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:108578000-108604400	Weak transcription	Small Intestine	intestine
5	chr11:108578200-108596000	Weak transcription	Right Ventricle	heart
6	chr11:108578200-108604400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:108578800-108596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:108578800-108604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:108578800-108604000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:108578800-108604200	Weak transcription	NHLF	lung
11	chr11:108578800-108604600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:108579000-108595600	Weak transcription	Colonic Mucosa	Colon
14	chr11:108579200-108604000	Weak transcription	HUVEC	blood vessel
15	chr11:108579600-108600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:108579800-108604200	Weak transcription	Psoas Muscle	Psoas
17	chr11:108580000-108603800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:108581000-108604200	Weak transcription	Fetal Heart	heart
19	chr11:108581200-108604200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:108581800-108595800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:108581800-108596000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:108581800-108598200	Weak transcription	A549	lung
24	chr11:108581800-108600000	Weak transcription	Aorta	Aorta
25	chr11:108581800-108600000	Weak transcription	Pancreas	Pancrea
26	chr11:108581800-108603200	Weak transcription	Gastric	stomach
27	chr11:108581800-108603200	Weak transcription	Lung	lung
28	chr11:108581800-108603400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:108581800-108603400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:108581800-108604000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:108581800-108604200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:108581800-108604200	Weak transcription	Spleen	Spleen
33	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
35	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
37	chr11:108582000-108600000	Weak transcription	Brain Angular Gyrus	brain
38	chr11:108582200-108600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:108582800-108595400	Weak transcription	Brain Germinal Matrix	brain
40	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
42	chr11:108584200-108596400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:108584400-108604200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:108584600-108599800	Weak transcription	Osteobl	bone
45	chr11:108584600-108600400	Weak transcription	NHDF-Ad	bronchial
46	chr11:108584800-108605600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:108585200-108604000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:108586200-108596200	Weak transcription	NHEK	skin
49	chr11:108586200-108604400	Weak transcription	HepG2	liver
50	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach

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