Variant report

Variant	rs11051034
Chromosome Location	chr12:30847218-30847219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30840520..30843164-chr12:30846192..30848468,2	MCF-7	breast:
3	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000133704	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10743725	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843794	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10843805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs11051009	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051026	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051044	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051046	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]
rs11610452	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12306961	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12308822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310942	0.94[ASN][1000 genomes]
rs12315407	0.82[AMR][1000 genomes]
rs12315446	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12371883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372023	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099028	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3888018	0.86[GIH][hapmap];1.00[MEX][hapmap]
rs3906774	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56003450	0.85[ASN][1000 genomes]
rs56705455	0.82[AMR][1000 genomes]
rs57153590	0.80[AMR][1000 genomes]
rs59483134	0.91[ASN][1000 genomes]
rs6487924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487929	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487931	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302606	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7302757	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303665	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306125	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307432	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308638	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310127	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7315859	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73292874	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74083892	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7963524	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968669	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7974251	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9651844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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
rs11051034	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30785000-30847800	Weak transcription	Gastric	stomach
2	chr12:30821800-30847400	Weak transcription	Lung	lung
3	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
4	chr12:30838400-30847400	Weak transcription	Placenta	Placenta
5	chr12:30838600-30847400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:30844200-30847400	Enhancers	HUVEC	blood vessel
7	chr12:30844600-30847400	Weak transcription	Left Ventricle	heart
8	chr12:30844600-30847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:30844600-30847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:30844600-30847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:30844600-30847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:30844800-30847400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:30844800-30847400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:30845200-30847400	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:30845200-30847400	Enhancers	Osteobl	bone
16	chr12:30845200-30847600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:30845200-30847800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:30845400-30847400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:30845400-30847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:30845600-30847400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:30845600-30847400	Enhancers	Small Intestine	intestine
22	chr12:30845800-30847400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:30845800-30847400	Weak transcription	HSMM	muscle
24	chr12:30846000-30848000	Flanking Active TSS	Dnd41	blood
25	chr12:30846200-30847400	Enhancers	Fetal Lung	lung
26	chr12:30846200-30847400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:30846200-30847600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:30846400-30847400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:30846400-30847600	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:30846400-30847600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:30846400-30847600	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:30846400-30847800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:30846400-30847800	Enhancers	Esophagus	oesophagus
34	chr12:30846400-30847800	Flanking Active TSS	Fetal Brain Female	brain
35	chr12:30846400-30848000	Enhancers	Spleen	Spleen
36	chr12:30846400-30849400	Active TSS	Rectal Smooth Muscle	rectum
37	chr12:30846600-30847400	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:30846600-30847400	Enhancers	Fetal Heart	heart
39	chr12:30846600-30847400	Enhancers	Pancreas	Pancrea
40	chr12:30846600-30847600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:30846800-30847400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:30846800-30847400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:30846800-30847400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:30846800-30847400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:30846800-30847400	Enhancers	Fetal Muscle Leg	muscle
46	chr12:30846800-30847400	Flanking Active TSS	GM12878-XiMat	blood
47	chr12:30846800-30847600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:30846800-30847600	Flanking Active TSS	HepG2	liver
49	chr12:30846800-30847800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:30846800-30847800	Flanking Active TSS	Brain Angular Gyrus	brain

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