Variant report

Variant	rs11042882
Chromosome Location	chr11:10594503-10594504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10594420..10597272-chr11:10621485..10623481,2	K562	blood:
2	chr11:10594034..10596855-chr11:10772449..10774466,2	K562	blood:

Variant related genes	Relation type
ENSG00000198730	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10219205	0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10219352	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1062912	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1065052	0.91[CEU][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10770126	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10840431	0.83[CEU][hapmap]
rs10840435	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10840438	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10840440	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840441	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10840443	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840444	0.82[ASN][1000 genomes]
rs10840445	0.83[ASN][1000 genomes]
rs10840446	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs10840448	0.86[ASN][1000 genomes]
rs11042875	0.85[ASN][1000 genomes]
rs11042876	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042877	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042879	0.86[ASN][1000 genomes]
rs11042883	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042893	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042894	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042895	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042897	0.86[ASN][1000 genomes]
rs11042898	0.84[ASN][1000 genomes]
rs11827503	0.84[ASN][1000 genomes]
rs12280275	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12288969	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576545	0.84[ASN][1000 genomes]
rs12576547	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531479	0.91[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16907989	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1964537	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054392	0.92[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2071018	0.83[CEU][hapmap]
rs2241489	0.82[ASN][1000 genomes]
rs2288236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303402	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34466373	0.83[EUR][1000 genomes]
rs34988160	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741033	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741034	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3741041	0.88[CEU][hapmap]
rs3741042	0.84[ASN][1000 genomes]
rs3781863	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4910162	0.86[ASN][1000 genomes]
rs61892975	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114453	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7114603	0.82[ASN][1000 genomes]
rs7115310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115735	0.86[ASN][1000 genomes]
rs7118551	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126245	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs724723	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7358373	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs746164	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749045	0.80[ASN][1000 genomes]
rs7941294	0.85[ASN][1000 genomes]
rs881436	0.84[ASN][1000 genomes]
rs918981	0.92[ASN][1000 genomes]
rs964425	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs964426	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11042882	SNORA45	cis	cerebellum	SCAN
rs11042882	RNF141	cis	parietal	SCAN
rs11042882	MRVI1	cis	normal skin	skin_eQTL
rs11042882	MRVI1	cis	uninvolved skin	skin_eQTL
rs11042882	BTBD10	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10573000-10603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10580600-10609800	Weak transcription	Thymus	Thymus
3	chr11:10583000-10600000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:10583200-10601800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:10583600-10595800	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:10586200-10594800	Weak transcription	Spleen	Spleen
7	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:10587200-10595600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:10587600-10605000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:10588400-10595800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:10588600-10602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:10589000-10595000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:10590200-10595000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:10590200-10595000	Weak transcription	Placenta	Placenta
15	chr11:10590200-10597000	Weak transcription	Fetal Lung	lung
16	chr11:10590200-10597600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:10590400-10597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:10590600-10594800	Weak transcription	Lung	lung
19	chr11:10590600-10594800	Weak transcription	Right Ventricle	heart
20	chr11:10590600-10594800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:10590600-10595200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:10590600-10595600	Weak transcription	Ovary	ovary
23	chr11:10590600-10600200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:10590600-10601600	Weak transcription	Adipose Nuclei	Adipose
25	chr11:10590600-10605600	Weak transcription	NH-A	brain
26	chr11:10590600-10611200	Weak transcription	Pancreas	Pancrea
27	chr11:10590800-10608200	Weak transcription	NHDF-Ad	bronchial
28	chr11:10591400-10603200	Weak transcription	Osteobl	bone
29	chr11:10591800-10594600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:10591800-10597000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:10591800-10600400	Weak transcription	Brain Substantia Nigra	brain
32	chr11:10592000-10594600	Weak transcription	Right Atrium	heart
33	chr11:10592000-10594800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:10592000-10597000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:10592000-10600200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:10592000-10602800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:10592000-10608000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:10592400-10594800	Weak transcription	NHLF	lung
39	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:10592600-10601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:10593200-10596000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:10593400-10605000	Weak transcription	Gastric	stomach
43	chr11:10593800-10594800	Enhancers	Fetal Heart	heart
44	chr11:10593800-10595000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:10594000-10594800	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:10594000-10595200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:10594000-10595800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:10594000-10598200	Enhancers	Psoas Muscle	Psoas
49	chr11:10594000-10603600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:10594000-10605000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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