Variant report

Variant	rs12249757
Chromosome Location	chr10:95993716-95993717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11187828	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12248509	0.80[AMR][1000 genomes]
rs12262808	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9663810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1036676	chr10:95851376-96103876	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95970800-96005800	Weak transcription	Colonic Mucosa	Colon
2	chr10:95971000-95994000	Weak transcription	Gastric	stomach
3	chr10:95973400-96012200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:95974200-96034000	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:95980600-95993800	Weak transcription	HSMMtube	muscle
6	chr10:95983200-95993800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:95984600-95995800	Weak transcription	Fetal Lung	lung
8	chr10:95984600-96000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:95984800-96023800	Weak transcription	Pancreas	Pancrea
10	chr10:95985000-95994800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:95985000-95995000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:95985600-95995000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:95985800-96005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:95985800-96033800	Weak transcription	Left Ventricle	heart
15	chr10:95986000-95994800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:95986000-96011400	Weak transcription	Stomach Mucosa	stomach
17	chr10:95987000-95993800	Weak transcription	Fetal Brain Male	brain
18	chr10:95987000-95995000	Strong transcription	Fetal Stomach	stomach
19	chr10:95987000-95998600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:95988000-95997400	Weak transcription	Aorta	Aorta
21	chr10:95988200-96005600	Weak transcription	Fetal Brain Female	brain
22	chr10:95989200-95994200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr10:95989400-95995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:95989400-96005800	Weak transcription	Ovary	ovary
25	chr10:95989400-96005800	Weak transcription	Spleen	Spleen
26	chr10:95990000-95995800	Weak transcription	A549	lung
27	chr10:95990000-95997400	Strong transcription	Fetal Muscle Leg	muscle
28	chr10:95990400-95995400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:95991400-95994400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:95991600-95996000	Strong transcription	Fetal Intestine Small	intestine
31	chr10:95992200-95994400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr10:95992400-95994800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:95992600-95994000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:95992600-95996600	Strong transcription	Fetal Intestine Large	intestine
35	chr10:95992800-95993800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:95992800-95994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:95992800-95994600	Weak transcription	Osteobl	bone
38	chr10:95992800-95997600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:95993000-95994400	Weak transcription	Lung	lung

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