Variant report

Variant	rs10767973
Chromosome Location	chr11:32958609-32958610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10454479	1.00[JPT][hapmap]
rs10767977	1.00[ASN][1000 genomes]
rs10835991	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10835996	1.00[ASN][1000 genomes]
rs10835997	1.00[ASN][1000 genomes]
rs11031978	1.00[JPT][hapmap]
rs11032017	1.00[JPT][hapmap]
rs11032058	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032060	0.94[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032072	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032073	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032074	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11032076	0.94[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224002	1.00[ASN][1000 genomes]
rs174747	1.00[JPT][hapmap]
rs1961248	0.89[AMR][1000 genomes]
rs1961543	0.89[AMR][1000 genomes]
rs197703	1.00[JPT][hapmap]
rs197706	1.00[JPT][hapmap]
rs2092657	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249555	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419772	1.00[JPT][hapmap]
rs2419773	1.00[JPT][hapmap]
rs2419783	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664693	1.00[JPT][hapmap]
rs2746036	0.94[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746037	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2786800	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4755476	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756355	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756373	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756385	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589450	1.00[ASN][1000 genomes]
rs602126	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6484610	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652963	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7108574	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109890	1.00[ASN][1000 genomes]
rs7118330	1.00[ASN][1000 genomes]
rs7128509	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474587	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7395190	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481844	0.84[AMR][1000 genomes]
rs7481878	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761284	1.00[JPT][hapmap]
rs761285	1.00[JPT][hapmap]
rs7941237	1.00[ASN][1000 genomes]
rs7944318	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7950261	1.00[JPT][hapmap]
rs9919531	1.00[ASN][1000 genomes]
rs9943506	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
8	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10767973	QSER1	cis	cerebellum	SCAN
rs10767973	PRRG4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32948400-32962000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:32948400-32963200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:32949600-32960200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:32950200-32968000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:32950400-32962600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:32950400-32994400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:32950800-32959400	Strong transcription	Fetal Thymus	thymus
8	chr11:32950800-32960200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:32951000-32960000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:32951000-32960200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:32951000-32960200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32951000-32962200	Strong transcription	Dnd41	blood
13	chr11:32951200-32958800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr11:32951200-32962600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:32951400-32960600	Strong transcription	Hela-S3	cervix
16	chr11:32951600-32963200	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr11:32951800-32959200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:32951800-32959200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:32951800-32960600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:32952000-32963200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:32952200-32962600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:32952400-32968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:32952600-32961800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:32952800-32958800	Strong transcription	Liver	Liver
25	chr11:32952800-32959200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr11:32952800-32959400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:32952800-32959400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:32952800-32959400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:32952800-32959600	Strong transcription	Brain Germinal Matrix	brain
30	chr11:32952800-32960200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:32952800-32962000	Strong transcription	Primary B cells from cord blood	blood
32	chr11:32952800-32963200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:32953000-32958800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:32953000-32960000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:32953200-32958800	Strong transcription	NH-A	brain
36	chr11:32953200-32959400	Strong transcription	Fetal Lung	lung
37	chr11:32953200-32960200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:32953200-32960200	Strong transcription	Fetal Brain Female	brain
39	chr11:32953200-32960200	Strong transcription	K562	blood
40	chr11:32953800-32978400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:32954000-32968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:32954200-32959600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:32954200-32968000	Weak transcription	Fetal Stomach	stomach
44	chr11:32954400-32962000	Weak transcription	Brain Angular Gyrus	brain
45	chr11:32954600-32971400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:32954600-32990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:32954800-32961200	Weak transcription	Aorta	Aorta
48	chr11:32954800-32968000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:32955000-32959600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:32955000-32968600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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