Variant report

Variant	rs2664693
Chromosome Location	chr11:32855458-32855459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32854588..32857057-chr11:32860540..32862429,2	K562	blood:
2	chr11:32851187..32853645-chr11:32854709..32858523,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135378	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10454479	1.00[JPT][hapmap]
rs10767973	1.00[JPT][hapmap]
rs10835955	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs11031928	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs11031939	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs11031949	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11031951	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs11031952	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs11031975	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031978	0.83[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031981	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031994	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031999	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032000	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032017	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032026	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11032043	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11032060	1.00[JPT][hapmap]
rs11032072	1.00[JPT][hapmap]
rs11032074	1.00[JPT][hapmap]
rs11032076	1.00[JPT][hapmap]
rs12365339	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1396994	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs174747	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs197702	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs197703	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs197706	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs197708	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs197711	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143572	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2419772	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2419773	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2746037	1.00[JPT][hapmap]
rs2786800	1.00[JPT][hapmap]
rs2900979	0.94[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2900980	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34991296	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4755451	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4755455	0.81[EUR][1000 genomes]
rs4755476	1.00[JPT][hapmap]
rs4756328	0.81[EUR][1000 genomes]
rs4756373	1.00[JPT][hapmap]
rs4756385	1.00[JPT][hapmap]
rs6484603	1.00[ASN][1000 genomes]
rs6484610	1.00[JPT][hapmap]
rs652963	1.00[JPT][hapmap]
rs7101848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	1.00[JPT][hapmap]
rs7109323	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7113870	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7114137	1.00[ASN][1000 genomes]
rs7124151	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7128509	1.00[JPT][hapmap]
rs7395190	1.00[JPT][hapmap]
rs7481878	1.00[JPT][hapmap]
rs761284	1.00[JPT][hapmap]
rs761285	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931061	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7935374	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7944318	1.00[JPT][hapmap]
rs7950261	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943506	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv897191	chr11:32805169-32903263	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv897192	chr11:32828760-32903263	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897193	chr11:32838288-32903263	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2664693	PRRG4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32852000-32862000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:32852200-32855600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:32852200-32876800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:32852600-32859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:32852600-32860000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:32852800-32860000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:32852800-32863800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:32852800-32871000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:32852800-32878800	Weak transcription	Placenta	Placenta
10	chr11:32853000-32859800	Weak transcription	HMEC	breast
11	chr11:32853000-32859800	Weak transcription	NHEK	skin
12	chr11:32853000-32863000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:32853000-32877200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:32853200-32856800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:32853800-32859400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:32854000-32871200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:32854600-32855800	Genic enhancers	Liver	Liver
18	chr11:32854600-32857000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:32854800-32856400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:32854800-32857200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:32855000-32876800	Weak transcription	Esophagus	oesophagus
22	chr11:32855400-32855600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:32855400-32857000	Strong transcription	Hela-S3	cervix
24	chr11:32855400-32860000	Weak transcription	Small Intestine	intestine

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