Variant report

Variant	rs12413824
Chromosome Location	chr10:53973129-53973130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12411588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414969	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16927970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16927986	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928074	0.87[EUR][1000 genomes]
rs73346917	0.84[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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr10:53963000-53973200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:53965600-53977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:53967800-53973200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:53968400-53973200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:53970200-53973200	Weak transcription	Psoas Muscle	Psoas
6	chr10:53970200-53975600	Weak transcription	HSMMtube	muscle
7	chr10:53971000-53974600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr10:53971600-53974600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:53971800-53973200	Enhancers	Colon Smooth Muscle	Colon
10	chr10:53971800-53973200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr10:53971800-53973600	Enhancers	Fetal Intestine Large	intestine
12	chr10:53971800-53974200	Enhancers	Fetal Intestine Small	intestine
13	chr10:53971800-53974600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:53971800-53974600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:53971800-53974600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:53971800-53974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:53972000-53973200	Enhancers	Fetal Lung	lung
18	chr10:53972000-53973400	Enhancers	Duodenum Mucosa	Duodenum
19	chr10:53972000-53975800	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:53972000-53976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:53972200-53973200	Weak transcription	Pancreas	Pancrea
22	chr10:53972200-53973200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:53972200-53975800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:53972200-53981800	Weak transcription	Aorta	Aorta
25	chr10:53972400-53974000	Enhancers	A549	lung
26	chr10:53972600-53974200	Enhancers	Liver	Liver
27	chr10:53972600-53977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:53972800-53973200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:53972800-53973400	Enhancers	NHLF	lung
30	chr10:53972800-53974600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:53973000-53973400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr10:53973000-53973400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr10:53973000-53973400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr10:53973000-53973400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:53973000-53973400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:53973000-53973400	Flanking Active TSS	HepG2	liver
37	chr10:53973000-53973400	Enhancers	HSMM	muscle
38	chr10:53973000-53974000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:53973000-53974000	Enhancers	Stomach Mucosa	stomach

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