Variant report

Variant	rs11042227
Chromosome Location	chr11:9252073-9252074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10770000	0.97[ASN][1000 genomes]
rs10770001	0.97[ASN][1000 genomes]
rs11042245	0.83[ASN][1000 genomes]
rs11602591	0.87[AMR][1000 genomes]
rs11608172	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289113	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295767	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296016	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420463	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577661	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12796666	0.85[AMR][1000 genomes]
rs12801814	0.86[AMR][1000 genomes]
rs2133216	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2873069	0.97[ASN][1000 genomes]
rs34446443	0.85[AMR][1000 genomes]
rs34494849	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34716494	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34729888	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35381016	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35757766	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35955530	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61875672	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61875673	0.86[AMR][1000 genomes]
rs61877814	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486210	0.93[ASN][1000 genomes]
rs6486215	0.93[ASN][1000 genomes]
rs6486226	1.00[ASN][1000 genomes]
rs6486231	0.85[ASN][1000 genomes]
rs7104221	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7109911	0.89[ASN][1000 genomes]
rs7112540	0.90[ASN][1000 genomes]
rs7114688	0.97[ASN][1000 genomes]
rs7115062	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7116459	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7124178	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7396439	0.93[ASN][1000 genomes]
rs7482630	0.85[ASN][1000 genomes]
rs770	0.97[ASN][1000 genomes]
rs7924664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933448	0.97[ASN][1000 genomes]
rs7941520	0.97[ASN][1000 genomes]
rs7951700	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs952374	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9736263	0.95[ASN][1000 genomes]
rs9888193	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9888229	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9226000-9252800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:9230400-9253400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9231000-9252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:9236000-9252200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:9237000-9252200	Weak transcription	NHLF	lung
6	chr11:9237000-9252400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:9237000-9254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:9240200-9252200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:9241400-9254200	Weak transcription	HMEC	breast
10	chr11:9241800-9252800	Weak transcription	HSMM	muscle
11	chr11:9244600-9252600	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:9244600-9252600	Weak transcription	Fetal Brain Female	brain
13	chr11:9245400-9252800	Weak transcription	Thymus	Thymus
14	chr11:9247000-9252400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:9247000-9252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:9247400-9252400	Enhancers	Brain Hippocampus Middle	brain
17	chr11:9247600-9252200	Weak transcription	Lung	lung
18	chr11:9247600-9252200	Weak transcription	Spleen	Spleen
19	chr11:9249000-9252400	Enhancers	Brain Angular Gyrus	brain
20	chr11:9249000-9252400	Weak transcription	GM12878-XiMat	blood
21	chr11:9249000-9252800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:9249400-9252800	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:9249600-9252200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:9249600-9252400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:9249600-9252600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:9249600-9252600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:9249600-9252600	Enhancers	Brain Anterior Caudate	brain
28	chr11:9249800-9252200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:9249800-9252200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:9249800-9252400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:9249800-9252400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:9249800-9252400	Enhancers	Brain Substantia Nigra	brain
33	chr11:9249800-9252600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:9249800-9252600	Enhancers	Fetal Heart	heart
35	chr11:9249800-9252800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:9249800-9252800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:9249800-9252800	Enhancers	Right Atrium	heart
38	chr11:9249800-9253000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:9249800-9253200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:9250200-9253000	Enhancers	Brain Germinal Matrix	brain
41	chr11:9250400-9252400	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:9250400-9252400	Enhancers	Right Ventricle	heart
43	chr11:9250400-9252600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:9250400-9252600	Enhancers	Placenta	Placenta
45	chr11:9250400-9252800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:9250400-9253000	Enhancers	Psoas Muscle	Psoas
47	chr11:9250600-9252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:9250600-9252400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:9250600-9252800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:9250600-9253000	Enhancers	Pancreas	Pancrea

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