Variant report

Variant	rs12414969
Chromosome Location	chr10:53975883-53975884
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:53652922..53653499-chr10:53975675..53976202,2	MCF-7	breast:
2	chr10:53637547..53638084-chr10:53975285..53976025,2	MCF-7	breast:
3	chr10:53864883..53865551-chr10:53975440..53976171,2	MCF-7	breast:
4	chr10:53969294..53971295-chr10:53974280..53975973,2	MCF-7	breast:
5	chr10:52770812..52771759-chr10:53975194..53976139,3	K562	blood:

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];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12413824	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16927970	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16927986	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16928095	1.00[AFR][1000 genomes]
rs4935320	1.00[AFR][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:46 , 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	chr10:53972000-53976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:53972200-53981800	Weak transcription	Aorta	Aorta
4	chr10:53972600-53977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:53973400-53976600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:53973400-53976800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:53973400-53978200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:53973600-53976400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:53973600-53976800	Weak transcription	Psoas Muscle	Psoas
10	chr10:53973600-53982000	Weak transcription	NHDF-Ad	bronchial
11	chr10:53974600-53976800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:53974600-53976800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:53974600-53976800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:53974600-53979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:53974800-53976000	Weak transcription	Fetal Intestine Small	intestine
16	chr10:53975600-53976000	Enhancers	HSMMtube	muscle
17	chr10:53975600-53976600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:53975600-53977600	Enhancers	Primary B cells from cord blood	blood
19	chr10:53975600-53977600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr10:53975600-53978000	Enhancers	Primary B cells from peripheral blood	blood
21	chr10:53975800-53976000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:53975800-53976200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:53975800-53976200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:53975800-53976200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:53975800-53976200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr10:53975800-53976200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:53975800-53976200	Enhancers	Liver	Liver
28	chr10:53975800-53976400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr10:53975800-53976400	Enhancers	NHLF	lung
30	chr10:53975800-53976600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:53975800-53976600	Enhancers	GM12878-XiMat	blood
32	chr10:53975800-53976600	Enhancers	HSMM	muscle
33	chr10:53975800-53977000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:53975800-53977000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:53975800-53977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:53975800-53977000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:53975800-53977000	Enhancers	Fetal Lung	lung
38	chr10:53975800-53977400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:53975800-53977400	Enhancers	Fetal Kidney	kidney
40	chr10:53975800-53977400	Enhancers	Dnd41	blood
41	chr10:53975800-53977600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:53975800-53977600	Enhancers	Primary hematopoietic stem cells	blood
43	chr10:53975800-53977600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:53975800-53977600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:53975800-53977800	Enhancers	Fetal Muscle Leg	muscle
46	chr10:53975800-53978200	Enhancers	Skeletal Muscle Male	skeletal muscle

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