Variant report

Variant	rs197711
Chromosome Location	chr11:32853467-32853468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32851501..32854370-chr11:32879596..32881538,2	MCF-7	breast:
2	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11031949	1.00[ASN][1000 genomes]
rs11031975	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031978	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031981	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031994	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031999	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032000	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032017	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032026	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11032043	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs174747	1.00[ASN][1000 genomes]
rs197702	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs197703	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs197706	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs197708	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2143572	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2419772	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2419773	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2664693	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900979	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2900980	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34991296	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4755451	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4755455	0.80[EUR][1000 genomes]
rs4756328	0.80[EUR][1000 genomes]
rs6484603	1.00[ASN][1000 genomes]
rs7101848	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109323	0.88[EUR][1000 genomes]
rs7113870	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7114137	1.00[ASN][1000 genomes]
rs7124151	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs761285	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931061	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7935374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7950261	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943506	0.93[AMR][1000 genomes];0.92[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
rs197711	PRRG4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 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	chr11:32852800-32853600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:32852800-32860000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:32852800-32863800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:32852800-32871000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:32852800-32878800	Weak transcription	Placenta	Placenta
11	chr11:32853000-32853600	Weak transcription	Esophagus	oesophagus
12	chr11:32853000-32854400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:32853000-32854600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:32853000-32854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:32853000-32855400	Weak transcription	Hela-S3	cervix
16	chr11:32853000-32859800	Weak transcription	HMEC	breast
17	chr11:32853000-32859800	Weak transcription	NHEK	skin
18	chr11:32853000-32863000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:32853000-32877200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:32853200-32854000	Enhancers	Liver	Liver
21	chr11:32853200-32856800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:32853400-32853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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