Variant report

Variant	rs12576545
Chromosome Location	chr11:10643196-10643197
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	chr11:10638003..10640828-chr11:10642600..10644255,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10219205	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs1062912	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs10770126	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10840438	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs10840440	0.90[CHB][hapmap]
rs10840441	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10840443	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10840444	0.87[ASN][1000 genomes]
rs10840445	0.91[ASN][1000 genomes]
rs10840446	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs10840448	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840450	0.81[ASN][1000 genomes]
rs11042876	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs11042877	0.90[CHB][hapmap]
rs11042882	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042883	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11042893	0.86[ASN][1000 genomes]
rs11042894	0.91[ASN][1000 genomes]
rs11042895	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042896	0.80[ASN][1000 genomes]
rs11042897	0.97[ASN][1000 genomes]
rs11042898	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827503	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280275	0.90[ASN][1000 genomes]
rs12288969	0.82[ASN][1000 genomes]
rs12576547	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576810	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1425152	0.89[CEU][hapmap]
rs16907989	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs1964537	0.90[CHB][hapmap]
rs2241489	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278125	0.81[CHB][hapmap];0.94[CHD][hapmap];0.82[ASN][1000 genomes]
rs2288236	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2303402	0.94[ASN][1000 genomes]
rs34988160	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3741033	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3741034	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3741042	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61892975	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7114453	0.96[ASN][1000 genomes]
rs7114603	0.97[ASN][1000 genomes]
rs7115310	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7115735	0.93[ASN][1000 genomes]
rs7126245	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs724723	0.96[ASN][1000 genomes]
rs7358373	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs746164	0.90[CHB][hapmap]
rs749045	0.85[ASN][1000 genomes]
rs881436	0.91[ASN][1000 genomes]
rs918981	0.84[ASN][1000 genomes]
rs964425	0.96[ASN][1000 genomes]
rs964426	0.96[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12576545	MRVI1	cis	normal skin	skin_eQTL
rs12576545	RNF141	cis	parietal	SCAN
rs12576545	SNORA45	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10628600-10645600	Weak transcription	Brain Anterior Caudate	brain
2	chr11:10629400-10643800	Weak transcription	Lung	lung
3	chr11:10629400-10644600	Weak transcription	Esophagus	oesophagus
4	chr11:10629400-10650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:10629400-10663600	Weak transcription	Fetal Intestine Large	intestine
6	chr11:10629600-10662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:10630800-10645200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:10633800-10647000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:10635600-10643600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:10635800-10643800	Weak transcription	Ovary	ovary
11	chr11:10635800-10644800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:10635800-10645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:10635800-10646000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:10637400-10646000	Weak transcription	Stomach Mucosa	stomach
15	chr11:10637800-10659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10638800-10645400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:10639200-10644600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:10639400-10644200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:10639600-10644800	Weak transcription	NHEK	skin
20	chr11:10639800-10644600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:10639800-10644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:10639800-10661600	Weak transcription	Gastric	stomach
23	chr11:10640400-10644800	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:10640600-10645000	Weak transcription	Right Atrium	heart
25	chr11:10640600-10661400	Weak transcription	Left Ventricle	heart
26	chr11:10640800-10644200	Weak transcription	Spleen	Spleen
27	chr11:10640800-10645000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:10641200-10643800	Weak transcription	Primary B cells from cord blood	blood
29	chr11:10641400-10643600	Weak transcription	NHLF	lung
30	chr11:10641400-10644400	Weak transcription	Placenta	Placenta
31	chr11:10641400-10644600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:10641400-10644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:10642600-10645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:10642600-10647000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:10642800-10645000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:10642800-10645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:10642800-10645000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:10642800-10646600	Strong transcription	Fetal Stomach	stomach
39	chr11:10642800-10647000	Strong transcription	Aorta	Aorta
40	chr11:10642800-10647400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:10643000-10643200	Enhancers	Primary B cells from peripheral blood	blood
42	chr11:10643000-10643400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:10643000-10644600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:10643000-10644600	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:10643000-10645600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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