Variant report

Variant	rs10783346
Chromosome Location	chr12:50654894-50654895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50637092..50639387-chr12:50653730..50656113,2	K562	blood:
2	chr12:50653280..50655917-chr12:50658435..50660402,2	K562	blood:
3	chr12:50653700..50656235-chr12:50667803..50669605,2	K562	blood:
4	chr12:50646771..50649988-chr12:50653700..50656765,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10747572	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783347	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12423130	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28364704	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3815671	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61928280	0.88[EUR][1000 genomes]
rs7302422	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736167	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7974834	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8181651	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50641000-50662000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:50641400-50659600	Weak transcription	Esophagus	oesophagus
3	chr12:50648800-50668000	Weak transcription	Lung	lung
4	chr12:50649200-50665400	Weak transcription	Aorta	Aorta
5	chr12:50649200-50671000	Weak transcription	Small Intestine	intestine
6	chr12:50649600-50659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50650800-50655800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:50651000-50655600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:50651000-50655600	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:50652200-50659600	Weak transcription	Gastric	stomach
11	chr12:50652200-50661800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:50652200-50665400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:50652200-50675800	Weak transcription	Fetal Stomach	stomach
14	chr12:50652400-50656400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:50652400-50656600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:50652400-50657800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:50652400-50664800	Weak transcription	Liver	Liver
18	chr12:50652400-50665200	Weak transcription	NHLF	lung
19	chr12:50652400-50665400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:50652400-50668000	Weak transcription	Left Ventricle	heart
21	chr12:50652400-50671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:50652400-50676200	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:50652400-50676400	Weak transcription	HSMM	muscle
24	chr12:50653000-50665400	Weak transcription	HSMMtube	muscle
25	chr12:50653200-50659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:50653400-50665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:50653800-50655600	Enhancers	K562	blood
28	chr12:50653800-50656800	Weak transcription	NHDF-Ad	bronchial
29	chr12:50653800-50665600	Weak transcription	Colonic Mucosa	Colon
30	chr12:50654000-50655200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:50654000-50655200	Weak transcription	A549	lung
32	chr12:50654000-50655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:50654000-50656400	Enhancers	HepG2	liver
34	chr12:50654000-50656600	Weak transcription	Osteobl	bone
35	chr12:50654000-50656800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:50654000-50656800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:50654000-50661800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:50654000-50665400	Weak transcription	Fetal Lung	lung
39	chr12:50654200-50657800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:50654200-50659600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:50654200-50668200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:50654400-50655200	Weak transcription	Psoas Muscle	Psoas
43	chr12:50654400-50665000	Weak transcription	Adipose Nuclei	Adipose
44	chr12:50654600-50655000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:50654600-50655000	Weak transcription	Stomach Mucosa	stomach
46	chr12:50654600-50655000	Weak transcription	Hela-S3	cervix
47	chr12:50654600-50655000	Weak transcription	HMEC	breast
48	chr12:50654600-50655000	Weak transcription	NHEK	skin
49	chr12:50654600-50657000	Weak transcription	Fetal Intestine Large	intestine
50	chr12:50654600-50659600	Weak transcription	Rectal Mucosa Donor 31	rectum

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