Variant report

Variant	rs11829716
Chromosome Location	chr12:44344461-44344462
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7488456	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969372	0.94[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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
2	chr12:44326600-44347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:44336600-44344600	Weak transcription	Fetal Stomach	stomach
5	chr12:44337000-44344800	Weak transcription	Esophagus	oesophagus
6	chr12:44337600-44346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44340000-44349600	Weak transcription	Fetal Kidney	kidney
8	chr12:44341200-44349200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:44341800-44346200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:44342000-44347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:44342200-44347400	Weak transcription	Gastric	stomach
13	chr12:44342400-44344600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:44342600-44344800	Weak transcription	Liver	Liver
15	chr12:44343400-44347000	Weak transcription	Fetal Intestine Large	intestine
16	chr12:44343400-44347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:44343600-44344800	Weak transcription	Aorta	Aorta
18	chr12:44343600-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
21	chr12:44343800-44344600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:44343800-44344800	Weak transcription	HSMMtube	muscle
23	chr12:44344400-44346000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr12:44344400-44347200	Weak transcription	Stomach Smooth Muscle	stomach

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