Variant report

Variant	rs727405
Chromosome Location	chr11:9529773-9529774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9515094..9518032-chr11:9527363..9529994,2	K562	blood:
2	chr11:9482061..9484730-chr11:9528660..9531358,3	MCF-7	breast:
3	chr11:9528918..9531416-chr11:9532180..9535930,3	K562	blood:
4	chr11:9482463..9484867-chr11:9528893..9530507,2	MCF-7	breast:
5	chr11:9481813..9484780-chr11:9528009..9531165,4	K562	blood:
6	chr11:9480912..9484218-chr11:9526454..9530428,5	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1020621	0.92[CEU][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1020622	0.81[ASN][1000 genomes]
rs10770028	0.95[JPT][hapmap]
rs10770032	0.95[JPT][hapmap]
rs10770033	0.81[ASN][1000 genomes]
rs10770034	0.94[ASN][1000 genomes]
rs10770037	0.85[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840228	0.95[JPT][hapmap]
rs10840234	0.89[JPT][hapmap]
rs10840235	0.90[JPT][hapmap]
rs10840243	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840244	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840245	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10840247	0.95[ASN][1000 genomes]
rs10840249	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840253	0.81[JPT][hapmap]
rs11042328	0.95[JPT][hapmap]
rs11042329	0.85[JPT][hapmap]
rs11042350	0.88[CEU][hapmap];0.86[GIH][hapmap]
rs11042353	0.81[ASN][1000 genomes]
rs11042355	0.81[ASN][1000 genomes]
rs11042356	0.81[ASN][1000 genomes]
rs11042366	0.92[CEU][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11042374	0.89[ASN][1000 genomes]
rs11042377	0.94[ASN][1000 genomes]
rs11042393	0.95[ASN][1000 genomes]
rs11042395	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11601316	0.97[ASN][1000 genomes]
rs12282176	0.81[ASN][1000 genomes]
rs12792161	0.95[ASN][1000 genomes]
rs12795344	0.95[JPT][hapmap]
rs12806418	0.95[ASN][1000 genomes]
rs1377667	0.98[ASN][1000 genomes]
rs1470895	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470896	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1543	0.98[ASN][1000 genomes]
rs1968717	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278900	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2290423	0.92[CEU][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap]
rs2290424	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2290425	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3763873	0.92[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs3763874	0.90[CHD][hapmap]
rs3763877	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41369549	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4625466	0.90[JPT][hapmap]
rs4810	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4910053	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4910468	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910472	0.81[ASN][1000 genomes]
rs6486307	0.95[JPT][hapmap]
rs6486359	0.81[ASN][1000 genomes]
rs6486361	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6486394	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs67548305	0.81[ASN][1000 genomes]
rs7102473	0.94[ASN][1000 genomes]
rs7104568	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7122252	0.92[CEU][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs723297	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs729313	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7483667	0.94[ASN][1000 genomes]
rs7926589	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927350	0.92[CEU][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap]
rs7933621	0.94[ASN][1000 genomes]
rs7939724	0.85[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7944578	0.92[CEU][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap]
rs7949973	0.81[ASN][1000 genomes]
rs8785	0.92[CEU][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs972594	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs727405	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
4	chr11:9518600-9530000	Weak transcription	NHEK	skin
5	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
7	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
8	chr11:9520600-9530000	Weak transcription	Stomach Mucosa	stomach
9	chr11:9520600-9532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:9521600-9532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:9521800-9530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:9522000-9530400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:9523000-9534000	Weak transcription	HMEC	breast
15	chr11:9523200-9530200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:9523200-9530200	Weak transcription	HUVEC	blood vessel
17	chr11:9523400-9529800	Weak transcription	K562	blood
18	chr11:9523400-9530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:9523400-9530000	Weak transcription	Left Ventricle	heart
20	chr11:9523400-9530200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:9523400-9530200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:9523400-9530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:9523400-9530200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:9523400-9530200	Weak transcription	Esophagus	oesophagus
25	chr11:9523400-9530200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:9523400-9530200	Weak transcription	HSMM	muscle
27	chr11:9523400-9530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:9523400-9530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:9523400-9530400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:9523400-9530600	Weak transcription	Gastric	stomach
31	chr11:9523400-9530600	Weak transcription	Pancreas	Pancrea
32	chr11:9523400-9531200	Weak transcription	Small Intestine	intestine
33	chr11:9523400-9532000	Weak transcription	Osteobl	bone
34	chr11:9523400-9534000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:9523400-9534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:9523400-9534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:9523400-9534000	Weak transcription	Aorta	Aorta
38	chr11:9523400-9534000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:9523400-9534000	Weak transcription	Fetal Brain Male	brain
40	chr11:9523400-9534200	Weak transcription	Right Ventricle	heart
41	chr11:9523400-9550800	Weak transcription	Colonic Mucosa	Colon
42	chr11:9523400-9551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:9523600-9532200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:9524600-9529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:9525000-9530200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:9525200-9530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:9525200-9530200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:9525200-9530200	Weak transcription	Spleen	Spleen
49	chr11:9525200-9532000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:9525200-9532200	Weak transcription	NH-A	brain

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