Variant report

Variant	rs12411588
Chromosome Location	chr10:53974219-53974220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:53966391..53969291-chr10:53973972..53975510,2	K562	blood:

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

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

rs_ID	r²[population]
rs12413824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414969	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16927970	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16927986	0.87[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	chr10:53965600-53977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:53970200-53975600	Weak transcription	HSMMtube	muscle
3	chr10:53971000-53974600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:53971600-53974600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:53971800-53974600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:53971800-53974600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:53971800-53974600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:53971800-53974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:53972000-53975800	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:53972000-53976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:53972200-53975800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:53972200-53981800	Weak transcription	Aorta	Aorta
13	chr10:53972600-53977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:53972800-53974600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:53973200-53974400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:53973200-53974600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:53973200-53975800	Weak transcription	Fetal Lung	lung
18	chr10:53973400-53974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:53973400-53974600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr10:53973400-53974600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr10:53973400-53975800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:53973400-53975800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:53973400-53975800	Weak transcription	HSMM	muscle
24	chr10:53973400-53975800	Weak transcription	NHLF	lung
25	chr10:53973400-53976600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:53973400-53976800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:53973400-53978200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:53973600-53975600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:53973600-53975600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:53973600-53975800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:53973600-53976400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:53973600-53976800	Weak transcription	Psoas Muscle	Psoas
33	chr10:53973600-53982000	Weak transcription	NHDF-Ad	bronchial
34	chr10:53973800-53974600	Enhancers	Primary B cells from peripheral blood	blood
35	chr10:53974000-53975600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:53974000-53975800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:53974200-53974600	Weak transcription	Fetal Intestine Small	intestine
38	chr10:53974200-53975800	Weak transcription	Liver	Liver
39	chr10:53974200-53975800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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