Variant report

Variant	rs4244804
Chromosome Location	chr11:8617550-8617551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10160430	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10160804	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10160805	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10444244	0.96[CEU][hapmap]
rs10444316	0.96[CEU][hapmap]
rs10743072	0.85[EUR][1000 genomes]
rs10743074	0.83[EUR][1000 genomes]
rs10743076	0.96[CEU][hapmap]
rs10743078	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10743079	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10743080	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10743081	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743082	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10769905	0.82[CEU][hapmap]
rs10769907	0.82[EUR][1000 genomes]
rs10769908	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs10769910	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10769915	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10769916	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10769918	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769919	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10769920	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10769921	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769922	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769923	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10769924	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769925	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769926	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769927	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840047	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10840051	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10840055	0.85[EUR][1000 genomes]
rs10840056	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10840058	0.85[EUR][1000 genomes]
rs10840060	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs10840062	0.96[CEU][hapmap]
rs10840063	0.92[CEU][hapmap]
rs10840065	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs10840072	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840077	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840079	0.81[ASN][1000 genomes]
rs10840080	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840081	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10840083	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840084	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840085	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840087	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10840089	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10840091	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840103	0.82[CEU][hapmap]
rs11041924	0.81[EUR][1000 genomes]
rs11041929	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs11041950	0.91[CEU][hapmap]
rs11041962	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11041974	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11041978	0.96[CEU][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs11041982	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs11041983	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041985	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11041990	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11041993	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11041994	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041995	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11041997	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11041999	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042002	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11493772	0.84[EUR][1000 genomes]
rs12226478	0.85[ASN][1000 genomes]
rs12277932	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12576736	0.83[EUR][1000 genomes]
rs12785939	0.84[ASN][1000 genomes]
rs12805671	0.84[ASN][1000 genomes]
rs12806736	0.85[CEU][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs1374262	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs1446462	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1446463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1446464	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs1900272	0.81[CEU][hapmap]
rs1900273	0.88[CEU][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2015629	0.84[EUR][1000 genomes]
rs2028882	0.96[CEU][hapmap];0.92[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs2044463	0.83[EUR][1000 genomes]
rs2289921	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2289923	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs2311391	0.81[CEU][hapmap]
rs2871753	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs3969875	0.82[EUR][1000 genomes]
rs4131072	0.85[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4244806	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4344491	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4405311	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4418812	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4475924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4520598	0.99[ASN][1000 genomes]
rs4612809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758067	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap]
rs4929929	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4929941	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4929942	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4929943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929944	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929945	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4929949	0.91[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4929950	0.85[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6484485	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6578968	0.85[EUR][1000 genomes]
rs6578969	0.85[EUR][1000 genomes]
rs7101471	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7108993	0.82[CEU][hapmap]
rs7112153	0.96[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs7120065	0.83[EUR][1000 genomes]
rs7126013	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs7126934	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7127684	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs725502	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs726007	0.85[CEU][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs7924753	0.85[EUR][1000 genomes]
rs7929120	0.83[CEU][hapmap];0.84[ASN][1000 genomes]
rs7931604	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs7934396	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7935708	0.85[EUR][1000 genomes]
rs7939731	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs7945659	0.81[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs7947670	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs7949017	0.86[EUR][1000 genomes]
rs9284150	0.85[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.91[ASN][1000 genomes]
rs9284151	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9300088	0.85[ASN][1000 genomes]
rs9300089	0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs9300090	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9300091	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9300092	0.96[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs9300093	0.96[CEU][hapmap]
rs9300094	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs935370	1.00[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs9705083	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9705253	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9736791	0.96[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9737312	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9737401	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4244804	RPL27A	cis	cerebellum	SCAN
rs4244804	SNORA45	cis	parietal	SCAN
rs4244804	STK33	cis	parietal	SCAN
rs4244804	OVCH2	cis	cerebellum	SCAN
rs4244804	TUB	cis	parietal	SCAN
rs4244804	ST5	cis	cerebellum	SCAN
rs4244804	STK33	cis	Artery Tibial	GTEx
rs4244804	STK33	cis	cerebellum	SCAN
rs4244804	RPL27A	cis	parietal	SCAN
rs4244804	STK33	cis	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8616200-8618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:8616200-8619200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:8616400-8618200	Weak transcription	A549	lung
4	chr11:8616400-8618800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:8616400-8619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:8616600-8617600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:8616600-8617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:8616600-8617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:8616600-8618000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:8616600-8618000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:8616600-8618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8616600-8618200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:8616600-8618400	Weak transcription	Stomach Mucosa	stomach
14	chr11:8616600-8625600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:8616800-8617600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:8617000-8618200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:8617000-8625400	Weak transcription	GM12878-XiMat	blood
18	chr11:8617400-8619000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links