Variant report

Variant	rs10269580
Chromosome Location	chr7:50937133-50937134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10215076	1.00[AMR][1000 genomes]
rs10216056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224149	1.00[AMR][1000 genomes]
rs10229043	1.00[AMR][1000 genomes]
rs10236228	1.00[AMR][1000 genomes]
rs10250343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256035	1.00[AMR][1000 genomes]
rs10277388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28580326	1.00[AMR][1000 genomes]
rs57586871	1.00[AMR][1000 genomes]
rs6962777	1.00[AMR][1000 genomes]
rs7785754	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv524131	chr7:50933370-50961303	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv527462	chr7:50933370-50989383	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:50933600-50937600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:50933600-50937800	Enhancers	Fetal Heart	heart
3	chr7:50935400-50939000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:50935600-50938200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:50935800-50938000	Enhancers	NH-A	brain
6	chr7:50936000-50937400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:50936000-50938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:50936000-50938200	Enhancers	NHDF-Ad	bronchial
9	chr7:50936200-50937200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:50936200-50937200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:50936200-50937600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:50936200-50937600	Flanking Active TSS	A549	lung
13	chr7:50936200-50937800	Enhancers	Hela-S3	cervix
14	chr7:50936200-50938000	Enhancers	HMEC	breast
15	chr7:50936200-50938400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:50936200-50940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:50936400-50937600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:50936400-50937600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:50936400-50938000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:50936400-50938600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:50936400-50938600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:50936400-50938800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:50936400-50939600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:50936400-50940000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:50936600-50937800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:50936800-50937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:50936800-50937200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:50936800-50937200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:50936800-50937200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:50936800-50937200	Flanking Active TSS	Osteobl	bone
31	chr7:50936800-50937400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:50936800-50937400	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:50936800-50937600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:50936800-50937600	Enhancers	Adipose Nuclei	Adipose
35	chr7:50936800-50937600	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:50936800-50937600	Enhancers	HUVEC	blood vessel
37	chr7:50936800-50937600	Enhancers	NHEK	skin
38	chr7:50936800-50937600	Enhancers	NHLF	lung
39	chr7:50936800-50938000	Enhancers	Brain Anterior Caudate	brain
40	chr7:50936800-50938000	Enhancers	HSMM	muscle
41	chr7:50936800-50938000	Enhancers	HSMMtube	muscle
42	chr7:50936800-50938200	Enhancers	Aorta	Aorta
43	chr7:50937000-50937200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:50937000-50937200	Enhancers	Brain Angular Gyrus	brain
45	chr7:50937000-50937200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr7:50937000-50937600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:50937000-50937800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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