Variant report

Variant	rs1065052
Chromosome Location	chr11:10555589-10555590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10537500..10540065-chr11:10555082..10557780,2	K562	blood:
2	chr11:10548650..10551746-chr11:10552608..10557430,5	K562	blood:
3	chr11:10544840..10547633-chr11:10554007..10556925,3	K562	blood:
4	chr11:10545885..10548023-chr11:10551263..10555868,4	K562	blood:
5	chr11:10554356..10555938-chr11:10584656..10587351,2	K562	blood:
6	chr11:10552304..10556337-chr11:10558208..10563308,9	K562	blood:

Variant related genes	Relation type
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10219352	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10437597	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10500726	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1062912	0.96[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1074375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1074377	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10770123	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10840431	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840435	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840436	0.98[ASN][1000 genomes]
rs10840440	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs10840443	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042876	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042877	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042882	0.91[CEU][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042883	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12277871	0.98[ASN][1000 genomes]
rs12279850	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12288969	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1531479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17318858	0.91[MKK][hapmap]
rs1964537	0.96[CEU][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1993817	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1993818	0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1993819	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2054392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071018	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288236	1.00[ASW][hapmap];0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34466373	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3741033	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3741037	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3741038	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3741039	0.86[ASN][1000 genomes]
rs3741041	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3781863	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910146	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4910153	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6484344	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7115310	0.92[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7118551	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7358373	0.96[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7416	1.00[LWK][hapmap];0.91[MKK][hapmap]
rs746164	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951653	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
2	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
5	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
14	chr11:10538400-10561600	Weak transcription	Lung	lung
15	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:10540600-10555600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:10541400-10561600	Weak transcription	Fetal Heart	heart
19	chr11:10541600-10561400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:10541600-10562000	Weak transcription	Gastric	stomach
21	chr11:10542200-10561600	Weak transcription	Fetal Stomach	stomach
22	chr11:10544200-10561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:10546400-10555800	Strong transcription	Fetal Thymus	thymus
24	chr11:10546800-10561400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:10548600-10556200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:10549200-10561600	Weak transcription	Right Ventricle	heart
27	chr11:10549400-10555800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:10549400-10560800	Weak transcription	Aorta	Aorta
29	chr11:10549400-10560800	Weak transcription	HSMMtube	muscle
30	chr11:10549400-10561400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:10549400-10562000	Weak transcription	Spleen	Spleen
32	chr11:10549600-10555800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:10549600-10555800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:10549600-10555800	Strong transcription	Fetal Intestine Large	intestine
35	chr11:10549600-10560600	Weak transcription	Hela-S3	cervix
36	chr11:10549600-10561400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:10549600-10561400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:10551000-10561600	Weak transcription	Left Ventricle	heart
39	chr11:10551200-10559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:10551200-10559800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:10551200-10561400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:10551200-10561400	Weak transcription	Fetal Kidney	kidney
43	chr11:10551200-10561400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:10551400-10560200	Weak transcription	A549	lung
45	chr11:10551400-10561400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:10551400-10561400	Weak transcription	Fetal Brain Female	brain
47	chr11:10551400-10561400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:10551400-10561600	Weak transcription	Placenta	Placenta
49	chr11:10551400-10561800	Weak transcription	Brain Germinal Matrix	brain
50	chr11:10551600-10555600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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