Variant report

Variant	rs754713
Chromosome Location	chr10:44797087-44797088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44795472..44799365-chr10:44803832..44806502,4	MCF-7	breast:
2	chr10:44796684..44797219-chr10:44806257..44806909,2	K562	blood:
3	chr10:44668515..44669612-chr10:44796448..44797191,3	MCF-7	breast:
4	chr10:44796365..44797945-chr10:44804933..44807344,2	MCF-7	breast:
5	chr10:44668727..44669822-chr10:44796486..44797204,4	MCF-7	breast:
6	chr10:44668773..44669619-chr10:44796276..44797169,3	MCF-7	breast:
7	chr10:44753173..44755247-chr10:44795371..44798195,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1089042	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238978	0.85[ASN][1000 genomes]
rs1436927	0.85[CEU][hapmap]
rs1657342	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1746054	0.97[EUR][1000 genomes]
rs2437934	0.87[CHD][hapmap];1.00[MEX][hapmap]
rs2505734	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs800317	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800321	0.93[EUR][1000 genomes]
rs800322	0.94[EUR][1000 genomes]
rs800323	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs800325	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs800326	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs800328	0.82[EUR][1000 genomes]
rs809602	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811649	0.93[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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv508579	chr10:44709770-44799256	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44791200-44805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:44794400-44799000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:44794800-44798000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:44795000-44797800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:44795200-44797400	Enhancers	NHEK	skin
6	chr10:44795200-44797800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:44795400-44797400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:44795400-44797400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:44795400-44797400	Enhancers	HSMM	muscle
10	chr10:44795400-44797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:44795400-44797600	Enhancers	NHDF-Ad	bronchial
12	chr10:44795400-44798000	Enhancers	Fetal Muscle Leg	muscle
13	chr10:44795600-44797400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:44795600-44797400	Enhancers	A549	lung
15	chr10:44795600-44797600	Enhancers	HSMMtube	muscle
16	chr10:44795600-44797600	Enhancers	NHLF	lung
17	chr10:44795600-44797800	Enhancers	Osteobl	bone
18	chr10:44795600-44798000	Enhancers	Fetal Muscle Trunk	muscle
19	chr10:44795800-44797400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:44795800-44798000	Enhancers	Brain Germinal Matrix	brain
21	chr10:44796000-44797200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:44796000-44797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:44796000-44797400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:44796000-44797400	Enhancers	Fetal Brain Male	brain
25	chr10:44796000-44797400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:44796000-44797400	Enhancers	GM12878-XiMat	blood
27	chr10:44796000-44797600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:44796000-44797800	Enhancers	Pancreas	Pancrea
29	chr10:44796000-44798000	Enhancers	NH-A	brain
30	chr10:44796200-44797400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:44796200-44797400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:44796200-44797400	Enhancers	Brain Anterior Caudate	brain
33	chr10:44796200-44797400	Enhancers	Brain Substantia Nigra	brain
34	chr10:44796200-44797400	Enhancers	Fetal Heart	heart
35	chr10:44796400-44797400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:44796400-44797400	Enhancers	Brain Hippocampus Middle	brain
37	chr10:44796600-44797200	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:44796600-44797200	Enhancers	Esophagus	oesophagus
39	chr10:44796600-44797200	Enhancers	Stomach Smooth Muscle	stomach
40	chr10:44796600-44797400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:44796600-44797400	Enhancers	Aorta	Aorta
42	chr10:44796600-44797400	Enhancers	Fetal Brain Female	brain
43	chr10:44796600-44797400	Enhancers	Left Ventricle	heart
44	chr10:44796600-44797400	Enhancers	Stomach Mucosa	stomach
45	chr10:44797000-44799400	Weak transcription	Right Ventricle	heart
46	chr10:44797000-44801400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:44797000-44801600	Weak transcription	Psoas Muscle	Psoas

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