Variant report

Variant	rs511890
Chromosome Location	chr11:74676512-74676513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74658212..74660081-chr11:74673726..74676528,2	K562	blood:
2	chr11:74659170..74661534-chr11:74674901..74677094,2	MCF-7	breast:
3	chr11:74649695..74652102-chr11:74676091..74677975,2	K562	blood:
4	chr11:74667515..74671064-chr11:74674801..74677690,4	K562	blood:
5	chr11:74664096..74666867-chr11:74674120..74676753,2	MCF-7	breast:
6	chr11:74674253..74676791-chr11:74679436..74681206,2	K562	blood:
7	chr11:74672805..74674764-chr11:74674829..74677378,2	K562	blood:
8	chr11:74658109..74660081-chr11:74673726..74677717,3	K562	blood:
9	chr11:74674114..74677070-chr11:74712523..74714236,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 16 )

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

rs_ID	r²[population]
rs11236269	0.92[ASN][1000 genomes]
rs11605604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12363224	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1282460	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1282461	0.81[ASN][1000 genomes]
rs1282689	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1282690	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1282692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1282695	1.00[ASN][1000 genomes]
rs1292895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1297319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1315297	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1583342	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2028343	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028344	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033532	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2851136	0.85[ASN][1000 genomes]
rs2919057	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs41531051	0.90[EUR][1000 genomes]
rs4245439	0.84[CEU][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap]
rs471462	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs473080	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs480840	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[ASN][1000 genomes]
rs495246	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs502225	0.87[EUR][1000 genomes]
rs505688	0.85[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs508319	0.90[ASN][1000 genomes]
rs511021	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512780	0.85[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap]
rs513137	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs519741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527529	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs529249	0.92[ASN][1000 genomes]
rs529488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs538502	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs543244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs546643	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs550491	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs550869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550980	0.85[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs557483	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs561589	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs562265	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs568558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs568758	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571446	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs573925	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs577063	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577102	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs580142	0.86[EUR][1000 genomes]
rs590105	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs599722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs614832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs616085	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs625268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629573	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs643807	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs646287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688665	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9444	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs997465	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs511890	XRRA1	cis	Adipose Subcutaneous	GTEx
rs511890	XRRA1	cis	parietal	SCAN
rs511890	XRRA1	cis	lymphoblastoid	seeQTL
rs511890	XRRA1	cis	Muscle Skeletal	GTEx
rs511890	XRRA1	cis	Thyroid	GTEx
rs511890	RNF169	cis	lymphoblastoid	seeQTL
rs511890	XRRA1	cis	Whole Blood	GTEx
rs511890	XRRA1	cis	Esophagus Mucosa	GTEx
rs511890	RP11-147I3.1	cis	Thyroid	GTEx
rs511890	KRTAP5-10	cis	parietal	SCAN
rs511890	RNF169	cis	cerebellum	SCAN
rs511890	XRRA1	cis	cerebellum	SCAN
rs511890	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs511890	XRRA1	cis	Artery Tibial	GTEx
rs511890	XRRA1	cis	lung	GTEx
rs511890	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74661200-74688600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:74661600-74686000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:74661800-74699200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:74661800-74699400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:74662000-74677600	Weak transcription	HSMMtube	muscle
6	chr11:74662000-74680800	Weak transcription	Fetal Kidney	kidney
7	chr11:74662000-74682200	Weak transcription	Aorta	Aorta
8	chr11:74662000-74682800	Weak transcription	Colonic Mucosa	Colon
9	chr11:74662200-74677000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:74662200-74677200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:74662200-74677200	Weak transcription	Thymus	Thymus
12	chr11:74662200-74677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:74662200-74677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:74662200-74699600	Weak transcription	Esophagus	oesophagus
15	chr11:74662400-74677800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:74662400-74677800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:74662400-74677800	Weak transcription	Fetal Stomach	stomach
18	chr11:74662400-74680600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:74662400-74691400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:74662600-74676600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:74662600-74682800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:74662600-74686000	Weak transcription	Fetal Brain Male	brain
23	chr11:74662800-74677800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:74662800-74682200	Weak transcription	Lung	lung
25	chr11:74663200-74680000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:74664000-74680400	Weak transcription	HMEC	breast
27	chr11:74664200-74677200	Weak transcription	Fetal Lung	lung
28	chr11:74664400-74678000	Weak transcription	Brain Germinal Matrix	brain
29	chr11:74664600-74677800	Weak transcription	NHLF	lung
30	chr11:74665600-74686000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:74666200-74677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:74667600-74689000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:74667800-74677800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:74667800-74678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:74667800-74683200	Weak transcription	Small Intestine	intestine
36	chr11:74667800-74692200	Strong transcription	Dnd41	blood
37	chr11:74668000-74677800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:74668000-74680800	Weak transcription	Brain Angular Gyrus	brain
39	chr11:74668600-74682400	Weak transcription	Right Ventricle	heart
40	chr11:74669200-74677600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:74670600-74677200	Weak transcription	Osteobl	bone
42	chr11:74671000-74677800	Weak transcription	Placenta	Placenta
43	chr11:74671000-74682200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:74671200-74677800	Weak transcription	Spleen	Spleen
45	chr11:74671400-74677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:74671600-74686400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:74671800-74682000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:74672000-74676600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:74672000-74677800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:74672000-74682000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links