Variant report

Variant	rs11051046
Chromosome Location	chr12:30888339-30888340
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30883768..30885514-chr12:30887352..30889771,2	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10743725	0.82[ASN][1000 genomes]
rs10771749	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10771763	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843794	0.82[ASN][1000 genomes]
rs10843797	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs10843798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10843801	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10843803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10843805	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs11051006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11051009	0.88[ASN][1000 genomes]
rs11051023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11051026	0.94[ASN][1000 genomes]
rs11051030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11051034	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610452	1.00[ASN][1000 genomes]
rs12306961	1.00[ASN][1000 genomes]
rs12308822	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12372023	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099028	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3888018	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3906774	0.82[ASN][1000 genomes]
rs59483134	0.85[ASN][1000 genomes]
rs6487924	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs6487929	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	0.94[ASN][1000 genomes]
rs7135005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302757	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303665	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306125	0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308638	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315859	0.88[ASN][1000 genomes]
rs73292874	0.88[ASN][1000 genomes]
rs74083892	0.88[ASN][1000 genomes]
rs7963438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963524	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968669	1.00[ASN][1000 genomes]
rs7968760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9651844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11051046	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
2	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
5	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
10	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
11	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:30869800-30889000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:30871400-30900800	Weak transcription	K562	blood
15	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:30876200-30894800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:30878000-30899200	Weak transcription	Fetal Brain Male	brain
21	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
23	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:30879600-30899400	Weak transcription	NHDF-Ad	bronchial
26	chr12:30879800-30895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:30879800-30905800	Weak transcription	NHLF	lung
28	chr12:30880000-30893800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:30880400-30888400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:30882000-30899200	Weak transcription	Brain Germinal Matrix	brain
31	chr12:30882000-30899200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
33	chr12:30882200-30889400	Weak transcription	Fetal Thymus	thymus
34	chr12:30882200-30891200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:30882200-30892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:30882200-30892000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:30882200-30894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:30882200-30899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:30882200-30899200	Weak transcription	Aorta	Aorta
40	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:30882200-30906400	Weak transcription	Lung	lung
44	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
46	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus
47	chr12:30882400-30891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:30882400-30891800	Weak transcription	Fetal Kidney	kidney
49	chr12:30882400-30892000	Weak transcription	Dnd41	blood
50	chr12:30882400-30905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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