Variant report

Variant	rs10840450
Chromosome Location	chr11:10653426-10653427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10652320..10654409-chr11:10655542..10658002,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10219205	0.85[CHB][hapmap]
rs10770126	0.80[CHB][hapmap];0.80[TSI][hapmap]
rs10840438	0.80[CHB][hapmap]
rs10840441	0.80[CHB][hapmap]
rs10840446	0.86[CHD][hapmap]
rs10840449	0.93[ASN][1000 genomes]
rs11042895	0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs11042898	0.81[ASN][1000 genomes]
rs11827503	0.81[ASN][1000 genomes]
rs12576545	0.81[ASN][1000 genomes]
rs1425152	0.90[JPT][hapmap]
rs2278124	0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2278125	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3741034	0.80[CHB][hapmap]
rs3741042	0.81[ASN][1000 genomes]
rs7114603	0.81[ASN][1000 genomes]
rs7126245	0.80[CHB][hapmap];0.80[TSI][hapmap]

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	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10840450	RNF141	cis	parietal	SCAN
rs10840450	OVCH2	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10629400-10663600	Weak transcription	Fetal Intestine Large	intestine
2	chr11:10629600-10662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:10637800-10659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:10639800-10661600	Weak transcription	Gastric	stomach
5	chr11:10640600-10661400	Weak transcription	Left Ventricle	heart
6	chr11:10644000-10659600	Weak transcription	Osteobl	bone
7	chr11:10646000-10661600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
9	chr11:10646200-10661400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:10646400-10659400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:10646800-10667600	Weak transcription	Right Atrium	heart
13	chr11:10647200-10659000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:10647400-10659200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:10647400-10659200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:10647800-10656800	Strong transcription	Aorta	Aorta
17	chr11:10647800-10658000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:10648000-10653600	Strong transcription	Ovary	ovary
19	chr11:10648000-10658400	Weak transcription	Brain Anterior Caudate	brain
20	chr11:10648000-10659200	Weak transcription	Colonic Mucosa	Colon
21	chr11:10648000-10661200	Weak transcription	Spleen	Spleen
22	chr11:10648000-10661400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:10648200-10658400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:10648200-10658600	Strong transcription	Fetal Stomach	stomach
25	chr11:10648400-10654600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:10648400-10659000	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:10648800-10653600	Strong transcription	Fetal Intestine Small	intestine
28	chr11:10649200-10655600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:10649400-10654800	Strong transcription	Colon Smooth Muscle	Colon
30	chr11:10649800-10654600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:10650400-10663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:10650400-10678600	Weak transcription	Right Ventricle	heart
33	chr11:10650600-10654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:10651000-10655000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:10651200-10654200	Enhancers	Placenta	Placenta
36	chr11:10651200-10656000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:10651800-10670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:10652400-10668200	Weak transcription	NHLF	lung
39	chr11:10652800-10653600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:10653000-10655400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:10653000-10658800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:10653200-10668200	Weak transcription	Esophagus	oesophagus
43	chr11:10653400-10653600	Enhancers	Lung	lung
44	chr11:10653400-10658800	Weak transcription	Primary B cells from peripheral blood	blood

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