Variant report

Variant	rs11736474
Chromosome Location	chr4:76589435-76589436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76584918..76589893-chr4:76647342..76651400,4	K562	blood:
2	chr4:76588077..76590101-chr4:76596082..76598712,2	MCF-7	breast:
3	chr4:76588364..76594216-chr4:76595418..76601309,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10014281	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10025315	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10028884	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10029110	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11097069	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11097070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11729258	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11737705	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13116639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13118426	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13133699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13137468	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13138717	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13140908	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1464070	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1464071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1546539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553986	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1828629	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1913299	0.80[AMR][1000 genomes]
rs1967495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226416	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2280095	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs324685	0.82[AMR][1000 genomes]
rs324689	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs324692	0.80[EUR][1000 genomes]
rs324695	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs324707	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324708	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324711	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324715	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324716	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324717	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324718	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324721	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs324724	0.80[EUR][1000 genomes]
rs324725	0.82[CHB][hapmap];0.82[CHD][hapmap];0.80[EUR][1000 genomes]
rs324737	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3796473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796485	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796488	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3853183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3853184	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3942252	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4337757	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4349625	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs436611	0.82[EUR][1000 genomes]
rs443952	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4859403	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859537	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4859542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859543	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859544	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859545	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859546	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859547	0.91[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4859548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859550	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5020591	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6419115	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6531778	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6531841	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531866	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531867	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531868	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531902	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6531903	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6826858	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6827809	1.00[CHB][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6828365	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6829402	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6832912	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6835702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835819	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6842216	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6855321	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6858530	0.84[AFR][1000 genomes]
rs6858741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7356270	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356310	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7657871	0.85[EUR][1000 genomes]
rs7659408	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662940	1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7672378	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7674063	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7674328	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677150	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7685459	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7691385	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7691765	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696241	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9942164	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9998246	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11736474	PPEF2	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
2	chr4:76566200-76596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:76566400-76593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:76567400-76596600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:76571800-76590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:76572000-76590000	Weak transcription	Pancreas	Pancrea
7	chr4:76572000-76592200	Weak transcription	Psoas Muscle	Psoas
8	chr4:76572000-76594400	Weak transcription	Aorta	Aorta
9	chr4:76573800-76596200	Weak transcription	Colonic Mucosa	Colon
10	chr4:76574000-76596400	Weak transcription	Right Ventricle	heart
11	chr4:76578000-76592200	Weak transcription	Spleen	Spleen
12	chr4:76578000-76596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:76578000-76597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:76578000-76597000	Weak transcription	Esophagus	oesophagus
15	chr4:76579000-76594000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:76581000-76594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:76583400-76591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:76583400-76595800	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:76583400-76595800	Weak transcription	Fetal Kidney	kidney
20	chr4:76583400-76596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:76583400-76596200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:76583600-76594200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:76583600-76594200	Weak transcription	Adipose Nuclei	Adipose
24	chr4:76583600-76596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:76583800-76596200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:76584400-76592200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:76584400-76592600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:76584400-76594000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:76584400-76596000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:76584400-76596200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:76584400-76596600	Weak transcription	HSMMtube	muscle
32	chr4:76584600-76596400	Weak transcription	Brain Angular Gyrus	brain
33	chr4:76584600-76597200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:76584800-76591200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:76585000-76590600	Weak transcription	Fetal Brain Male	brain
36	chr4:76585200-76596000	Weak transcription	NHLF	lung
37	chr4:76585400-76589800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:76585600-76589600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr4:76585600-76593800	Weak transcription	Hela-S3	cervix
40	chr4:76586000-76590400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:76586400-76590200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:76586400-76594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76586600-76589800	Strong transcription	Fetal Intestine Small	intestine
44	chr4:76586600-76592200	Weak transcription	Left Ventricle	heart
45	chr4:76586600-76593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:76586600-76597400	Weak transcription	Gastric	stomach
47	chr4:76586800-76589800	Weak transcription	Fetal Intestine Large	intestine
48	chr4:76586800-76591600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:76586800-76592800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:76586800-76596000	Weak transcription	Fetal Lung	lung

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