Variant report

Variant	rs12417800
Chromosome Location	chr11:9937837-9937838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10840315	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840323	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840325	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042526	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042529	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042534	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042535	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042536	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042543	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042547	0.81[AMR][1000 genomes]
rs11042550	0.81[AMR][1000 genomes]
rs11602515	0.81[AMR][1000 genomes]
rs11607582	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419564	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270804	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17355924	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909915	0.81[AMR][1000 genomes]
rs4910075	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910077	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910080	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4910081	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55784591	0.81[AMR][1000 genomes]
rs61876937	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932661	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1041148	chr11:9927980-9954537	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv976477	chr11:9929222-9945590	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3520342	chr11:9937276-9942874	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3520343	chr11:9937276-9942874	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv2632556	chr11:9937778-9940402	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
3	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
4	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:9925200-9944400	Weak transcription	Ovary	ovary
13	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:9925400-9952200	Weak transcription	Lung	lung
15	chr11:9927800-9944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:9928000-9944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:9928000-9944400	Weak transcription	Brain Anterior Caudate	brain
18	chr11:9928400-9944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:9928600-9938200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:9928600-9944200	Weak transcription	Adipose Nuclei	Adipose
21	chr11:9929000-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:9929000-9944400	Weak transcription	Liver	Liver
23	chr11:9929000-9952000	Weak transcription	Fetal Lung	lung
24	chr11:9929200-9941000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:9929200-9966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:9929400-9944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:9929600-9944200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:9929600-9944400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:9929600-9944400	Weak transcription	HSMM	muscle
30	chr11:9929600-9944400	Weak transcription	Osteobl	bone
31	chr11:9929600-9953000	Weak transcription	HSMMtube	muscle
32	chr11:9930000-9938600	Weak transcription	Fetal Kidney	kidney
33	chr11:9930600-9944200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:9931000-9944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:9932000-9944400	Weak transcription	A549	lung
36	chr11:9933600-9946200	Weak transcription	Fetal Intestine Small	intestine
37	chr11:9934400-9944400	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:9934800-9952200	Weak transcription	Fetal Stomach	stomach
39	chr11:9935200-9942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:9935800-9944400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:9935800-9952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:9936000-9944600	Weak transcription	NHDF-Ad	bronchial
43	chr11:9936200-9943000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:9936200-9951800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:9936200-9952000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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