Variant report

Variant	rs1807990
Chromosome Location	chr11:93447561-93447562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11822585	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2077408	0.86[ASN][1000 genomes]
rs58172303	0.89[EUR][1000 genomes]
rs58671261	0.89[EUR][1000 genomes]
rs59031514	0.88[ASN][1000 genomes]
rs61743303	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66460850	0.88[ASN][1000 genomes]
rs67112133	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67182840	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67257421	0.89[EUR][1000 genomes]
rs67310816	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67437695	0.89[EUR][1000 genomes]
rs67749053	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67769616	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67879380	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109236	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115759	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72643380	0.96[ASN][1000 genomes]
rs7930516	0.89[EUR][1000 genomes]
rs7937500	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7939577	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1807990	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
3	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
4	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
7	chr11:93432400-93448000	Weak transcription	Gastric	stomach
8	chr11:93432600-93448000	Weak transcription	Lung	lung
9	chr11:93432800-93448200	Weak transcription	Right Ventricle	heart
10	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:93437200-93448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:93437800-93448000	Weak transcription	Aorta	Aorta
13	chr11:93438000-93448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:93440200-93447800	Weak transcription	Placenta	Placenta
15	chr11:93440200-93460000	Weak transcription	NHLF	lung
16	chr11:93441000-93447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:93441600-93449000	Weak transcription	Pancreas	Pancrea
18	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
19	chr11:93441800-93450600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:93442000-93447600	Weak transcription	Thymus	Thymus
21	chr11:93442000-93449800	Weak transcription	HSMM	muscle
22	chr11:93442000-93450800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
24	chr11:93442200-93448000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:93442200-93449000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:93442200-93449000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:93442200-93454200	Weak transcription	NH-A	brain
28	chr11:93442400-93448200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:93442600-93447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:93442600-93448200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:93442600-93448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:93442600-93449000	Weak transcription	Left Ventricle	heart
33	chr11:93442600-93450800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:93442800-93447800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:93442800-93448200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:93442800-93448200	Weak transcription	Ovary	ovary
37	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
38	chr11:93443400-93447800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:93443400-93447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:93443400-93448000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:93443400-93448000	Strong transcription	Dnd41	blood
42	chr11:93443400-93448400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:93443400-93448600	Weak transcription	HUVEC	blood vessel
44	chr11:93443400-93451000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:93443600-93447600	Weak transcription	HepG2	liver
46	chr11:93443600-93448000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:93443600-93448000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:93443600-93448000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:93443600-93450000	Weak transcription	NHEK	skin
50	chr11:93443600-93450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links