Variant report

Variant	rs11143761
Chromosome Location	chr9:71415903-71415904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71392572..71394227-chr9:71414871..71416644,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10448322	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448338	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10781282	0.87[CEU][hapmap]
rs10869320	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869538	0.93[CEU][hapmap];0.82[MEX][hapmap]
rs11143691	0.80[CEU][hapmap];0.82[MEX][hapmap]
rs11143715	0.82[CEU][hapmap]
rs11143741	0.87[CEU][hapmap]
rs11143777	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143870	0.87[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143882	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143900	0.82[CEU][hapmap]
rs11143938	0.92[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143951	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143988	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144059	0.80[CEU][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap]
rs11144063	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144074	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144136	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144138	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144152	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144154	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144158	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144162	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144163	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144178	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144181	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144191	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144206	0.93[CEU][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs11144215	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144305	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11144327	1.00[ASN][1000 genomes]
rs11144351	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12003432	0.93[CEU][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes]
rs12339235	0.82[CEU][hapmap]
rs12376037	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376991	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377033	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379061	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12380573	1.00[MEX][hapmap]
rs12552102	0.86[CEU][hapmap];0.82[MEX][hapmap]
rs12555680	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555728	0.87[CEU][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap]
rs1414951	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414952	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414954	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17057680	0.93[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058634	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058780	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058792	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs17391456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391582	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483165	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376559	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623507	0.82[MEX][hapmap]
rs4744737	1.00[ASN][1000 genomes]
rs62552132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566870	1.00[ASN][1000 genomes]
rs62566871	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566872	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566911	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566915	1.00[ASN][1000 genomes]
rs62566916	1.00[ASN][1000 genomes]
rs62569347	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569349	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62571161	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018854	0.87[CEU][hapmap]
rs7024695	0.82[CEU][hapmap]
rs7035892	0.82[CEU][hapmap]
rs7042283	0.84[EUR][1000 genomes]
rs72717956	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720053	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720061	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720068	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722034	1.00[ASN][1000 genomes]
rs7865397	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs950786	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11143761	FAM189A2	cis	cerebellum	SCAN
rs11143761	TRPM3	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71397200-71417400	Weak transcription	Lung	lung
2	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
3	chr9:71403200-71419800	Weak transcription	Pancreas	Pancrea
4	chr9:71404600-71431400	Weak transcription	HepG2	liver
5	chr9:71409000-71417400	Weak transcription	Right Atrium	heart
6	chr9:71409200-71421000	Weak transcription	Placenta	Placenta
7	chr9:71410000-71417000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:71410000-71417400	Weak transcription	Left Ventricle	heart
9	chr9:71410000-71417600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:71410200-71419200	Weak transcription	Gastric	stomach
11	chr9:71410200-71419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71410200-71419800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:71410200-71428600	Weak transcription	Aorta	Aorta
14	chr9:71410400-71417200	Weak transcription	Fetal Intestine Large	intestine
15	chr9:71410400-71417200	Weak transcription	Fetal Intestine Small	intestine
16	chr9:71410400-71420200	Weak transcription	Stomach Mucosa	stomach
17	chr9:71413600-71417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:71413800-71416200	Weak transcription	GM12878-XiMat	blood
19	chr9:71413800-71416600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr9:71414000-71420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:71414000-71437000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:71414200-71416600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:71415000-71418600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:71415400-71416200	Enhancers	Fetal Heart	heart
26	chr9:71415600-71416200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:71415600-71416800	Weak transcription	Primary B cells from cord blood	blood
28	chr9:71415800-71416400	Enhancers	HMEC	breast

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