Variant report

Variant	rs4930436
Chromosome Location	chr11:67329337-67329338
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	chr11:67320808..67323577-chr11:67327073..67329532,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1079719	0.87[EUR][1000 genomes]
rs10896181	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11603991	0.93[CHB][hapmap]
rs11605586	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12421329	0.92[CHB][hapmap]
rs12790798	0.92[CHB][hapmap]
rs12793832	0.92[CHB][hapmap]
rs1695	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs17593068	0.90[EUR][1000 genomes]
rs1871034	0.88[JPT][hapmap]
rs1871042	0.84[CHB][hapmap]
rs1871043	0.93[CHB][hapmap]
rs2370141	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2370142	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2370143	0.84[EUR][1000 genomes]
rs2514022	0.92[CHB][hapmap]
rs36211089	0.83[EUR][1000 genomes]
rs4024254	0.92[CHB][hapmap]
rs4148959	0.92[CHB][hapmap]
rs4320958	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4891	1.00[CHB][hapmap]
rs4930430	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs4930431	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs55854833	0.94[EUR][1000 genomes]
rs58046082	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591245	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6591249	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591251	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591252	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591254	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591255	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591256	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7103632	0.93[CHB][hapmap]
rs7103713	0.97[EUR][1000 genomes]
rs7106423	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7106675	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7108426	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs749174	0.84[CHB][hapmap]
rs762803	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs7927657	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7940813	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7941395	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7941648	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7945035	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7945927	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948073	0.93[CHB][hapmap]
rs7948478	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7948823	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7948911	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7949394	0.94[EUR][1000 genomes]
rs7949587	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs947895	0.84[CHB][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4930436	PTPRCAP	cis	Adipose Subcutaneous	GTEx
rs4930436	PTPRCAP	cis	Heart Left Ventricle	GTEx
rs4930436	NUDT8	cis	Heart Left Ventricle	GTEx
rs4930436	PTPRCAP	cis	Nerve Tibial	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67324200-67331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:67325600-67331600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67326000-67330800	Weak transcription	Left Ventricle	heart
4	chr11:67326200-67329600	Weak transcription	Hela-S3	cervix
5	chr11:67326400-67329400	Enhancers	GM12878-XiMat	blood
6	chr11:67326400-67329800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:67326400-67329800	Weak transcription	NHEK	skin
8	chr11:67326400-67330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:67326400-67330400	Weak transcription	Psoas Muscle	Psoas
10	chr11:67326400-67330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:67326400-67330600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:67326400-67330800	Weak transcription	Right Atrium	heart
13	chr11:67326400-67331000	Weak transcription	Pancreas	Pancrea
14	chr11:67326400-67332200	Enhancers	Fetal Intestine Large	intestine
15	chr11:67326600-67332200	Enhancers	Fetal Intestine Small	intestine
16	chr11:67326800-67330000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:67327000-67330800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:67327200-67329600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:67327200-67330400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:67327200-67330400	Weak transcription	HSMMtube	muscle
21	chr11:67327200-67330400	Weak transcription	Osteobl	bone
22	chr11:67327200-67330600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:67327200-67330600	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:67327200-67330600	Weak transcription	Stomach Mucosa	stomach
25	chr11:67327200-67331000	Weak transcription	Right Ventricle	heart
26	chr11:67327600-67330800	Weak transcription	Aorta	Aorta
27	chr11:67328000-67330200	Weak transcription	HUVEC	blood vessel
28	chr11:67328400-67329400	Weak transcription	Fetal Heart	heart
29	chr11:67328400-67329400	Weak transcription	A549	lung
30	chr11:67328400-67330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:67328600-67330200	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:67328600-67333800	Enhancers	Placenta	Placenta
33	chr11:67329000-67330200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:67329000-67332200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:67329200-67329400	Weak transcription	Fetal Kidney	kidney
36	chr11:67329200-67329600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr11:67329200-67330800	Enhancers	HepG2	liver
38	chr11:67329200-67331400	Enhancers	Liver	Liver

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