Variant report

Variant	rs13239186
Chromosome Location	chr7:117510621-117510622
allele	C/T
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:16)

rs_ID	r²[population]
rs10244364	1.00[ASN][1000 genomes]
rs10252771	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10259910	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10263711	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267771	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276758	0.84[AMR][1000 genomes]
rs10487380	0.84[AMR][1000 genomes]
rs34031516	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34212554	0.95[ASN][1000 genomes]
rs34298216	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34564710	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952555	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6961907	0.84[AMR][1000 genomes]
rs6976111	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs727164	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7776980	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr7:117469600-117511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:117484400-117510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:117489400-117511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:117502400-117511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:117502400-117511800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:117502800-117511800	Weak transcription	Pancreas	Pancrea
7	chr7:117504000-117512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:117504400-117511600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:117506400-117510800	Enhancers	Brain Hippocampus Middle	brain
10	chr7:117506400-117510800	Enhancers	Brain Substantia Nigra	brain
11	chr7:117507000-117511400	Weak transcription	Adipose Nuclei	Adipose
12	chr7:117507200-117511600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:117507400-117511200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:117507600-117512000	Enhancers	Fetal Heart	heart
15	chr7:117508800-117511600	Enhancers	Fetal Lung	lung
16	chr7:117509400-117512000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:117509600-117512000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:117509600-117512000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:117509800-117511000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:117509800-117514400	Active TSS	Brain Anterior Caudate	brain
21	chr7:117510000-117510800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr7:117510000-117511000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:117510000-117511000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:117510000-117511600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:117510200-117510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:117510200-117511600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:117510200-117511800	Weak transcription	Esophagus	oesophagus
28	chr7:117510200-117513200	Active TSS	Fetal Brain Male	brain
29	chr7:117510200-117514200	Active TSS	Brain Angular Gyrus	brain
30	chr7:117510200-117514200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:117510400-117512000	Active TSS	Fetal Brain Female	brain
32	chr7:117510400-117514200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:117510400-117514200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:117510600-117510800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:117510600-117510800	Enhancers	Fetal Stomach	stomach
36	chr7:117510600-117511000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:117510600-117511000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:117510600-117511400	Flanking Active TSS	NHLF	lung
39	chr7:117510600-117511600	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:117510600-117511800	Active TSS	Stomach Smooth Muscle	stomach

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