Variant report

Variant	rs12280275
Chromosome Location	chr11:10624983-10624984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10617278..10621445-chr11:10622664..10626512,4	K562	blood:
2	chr11:10604416..10607231-chr11:10624844..10627462,2	K562	blood:
3	chr11:10623393..10626266-chr11:10628128..10630902,3	K562	blood:
4	chr11:10618512..10620959-chr11:10622664..10624993,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10219205	0.90[JPT][hapmap]
rs10219352	0.81[EUR][1000 genomes]
rs1062912	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10770126	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10840438	0.86[JPT][hapmap]
rs10840440	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs10840441	0.95[JPT][hapmap]
rs10840443	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840444	0.88[ASN][1000 genomes]
rs10840445	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840446	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840448	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042876	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs11042877	0.85[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042882	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042883	0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042893	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042894	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042895	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11042897	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042898	0.90[ASN][1000 genomes]
rs11827503	0.90[ASN][1000 genomes]
rs12288969	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576545	0.90[ASN][1000 genomes]
rs12576547	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16907989	0.91[JPT][hapmap]
rs1964537	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2241489	0.88[ASN][1000 genomes]
rs2288236	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2303402	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34988160	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3741033	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3741034	0.95[JPT][hapmap]
rs3741042	0.90[ASN][1000 genomes]
rs61892975	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7114453	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7114603	0.88[ASN][1000 genomes]
rs7115310	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115735	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7118551	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126245	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs724723	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7358373	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs746164	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs749045	0.87[ASN][1000 genomes]
rs881436	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964425	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs964426	0.82[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12280275	MRVI1	cis	normal skin	skin_eQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:10597200-10625800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:10607400-10626000	Weak transcription	Fetal Lung	lung
5	chr11:10608800-10625400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:10611600-10625000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:10615000-10625600	Weak transcription	Osteobl	bone
8	chr11:10615200-10625600	Weak transcription	NHDF-Ad	bronchial
9	chr11:10615800-10625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:10616800-10625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:10616800-10625400	Weak transcription	HMEC	breast
12	chr11:10617600-10626800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:10617600-10627600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:10619200-10625400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:10620200-10635800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:10620400-10630000	Enhancers	Fetal Muscle Leg	muscle
17	chr11:10620400-10630200	Enhancers	Fetal Thymus	thymus
18	chr11:10620800-10626400	Enhancers	Placenta	Placenta
19	chr11:10621000-10626400	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:10621200-10625800	Strong transcription	NHLF	lung
21	chr11:10621200-10627400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:10621400-10625800	Weak transcription	Fetal Intestine Large	intestine
23	chr11:10621400-10626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:10621600-10625200	Weak transcription	NHEK	skin
25	chr11:10621600-10625400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:10621600-10625600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:10621800-10625600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:10622000-10625200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:10622000-10625600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:10622200-10625600	Strong transcription	Fetal Intestine Small	intestine
31	chr11:10622200-10627200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:10622400-10626000	Strong transcription	Colon Smooth Muscle	Colon
33	chr11:10622400-10627400	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:10622400-10629200	Strong transcription	Aorta	Aorta
35	chr11:10622600-10625600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:10622600-10627400	Weak transcription	Fetal Kidney	kidney
37	chr11:10622800-10625000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:10622800-10625200	Strong transcription	Fetal Stomach	stomach
39	chr11:10622800-10625400	Weak transcription	HSMM	muscle
40	chr11:10622800-10626200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:10622800-10632800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:10623000-10625600	Weak transcription	Lung	lung
43	chr11:10623000-10625800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:10623000-10629000	Weak transcription	Colonic Mucosa	Colon
45	chr11:10623200-10625200	Genic enhancers	Primary B cells from cord blood	blood
46	chr11:10623200-10625400	Weak transcription	Ovary	ovary
47	chr11:10623400-10625600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:10623400-10635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:10623600-10625000	Weak transcription	Esophagus	oesophagus
50	chr11:10623600-10625400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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