Variant report

Variant	rs11252650
Chromosome Location	chr10:4714053-4714054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11252639	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252644	0.89[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313450	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs313452	0.90[CEU][hapmap];0.88[GIH][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs313454	0.94[EUR][1000 genomes]
rs313490	0.92[EUR][1000 genomes]
rs313491	0.95[EUR][1000 genomes]
rs313494	0.94[EUR][1000 genomes]
rs45608837	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73595210	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv549865	chr10:4704709-4715476	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv549870	chr10:4708627-4715476	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4712600-4716200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:4712800-4714800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:4713000-4714200	Strong transcription	HUVEC	blood vessel
4	chr10:4713000-4714400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4713000-4714600	Enhancers	HSMM	muscle
6	chr10:4713000-4715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:4713000-4715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:4713000-4715400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr10:4713000-4715600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:4713200-4714400	Flanking Active TSS	HMEC	breast
11	chr10:4713200-4714600	Enhancers	HSMMtube	muscle
12	chr10:4713200-4714800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:4713200-4714800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:4713200-4715600	Flanking Active TSS	NHEK	skin
15	chr10:4713600-4714200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:4713600-4714200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:4713600-4714200	Active TSS	Left Ventricle	heart
18	chr10:4713600-4714200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:4713600-4714200	Flanking Active TSS	NH-A	brain
20	chr10:4713600-4714600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:4713600-4714600	Flanking Active TSS	Osteobl	bone
22	chr10:4713600-4714800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:4713800-4714200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:4713800-4714200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:4713800-4714200	Enhancers	Esophagus	oesophagus
26	chr10:4713800-4714200	Enhancers	Fetal Muscle Leg	muscle
27	chr10:4713800-4714400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:4713800-4714400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:4713800-4714400	Enhancers	Fetal Brain Female	brain
30	chr10:4713800-4714600	Enhancers	Brain Germinal Matrix	brain
31	chr10:4713800-4714800	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr10:4713800-4714800	Active TSS	A549	lung
33	chr10:4713800-4715200	Active TSS	Adipose Nuclei	Adipose
34	chr10:4714000-4714200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:4714000-4714400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:4714000-4716000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:4714000-4717800	Weak transcription	NHDF-Ad	bronchial
38	chr10:4714000-4719600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:4714000-4719800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:4714000-4720800	Weak transcription	Right Atrium	heart

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