Variant report

Variant	rs952503
Chromosome Location	chr9:78831415-78831416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10746996	0.95[ASN][1000 genomes]
rs10746997	0.89[ASN][1000 genomes]
rs10781346	0.85[ASN][1000 genomes]
rs10781348	0.89[ASN][1000 genomes]
rs10869736	0.89[ASN][1000 genomes]
rs10869737	0.89[ASN][1000 genomes]
rs11144801	0.88[ASN][1000 genomes]
rs11144804	0.89[ASN][1000 genomes]
rs12336492	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495255	0.87[ASN][1000 genomes]
rs3913046	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545165	0.85[ASN][1000 genomes]
rs4745528	0.86[ASN][1000 genomes]
rs6560508	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7033364	0.85[ASN][1000 genomes]
rs7854188	0.87[ASN][1000 genomes]
rs990559	0.85[ASN][1000 genomes]
rs990560	0.86[ASN][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893476	chr9:78768830-78887992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78814000-78848200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:78824200-78832800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:78827400-78832000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:78827800-78832600	Enhancers	NHDF-Ad	bronchial
5	chr9:78828400-78831800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:78828400-78831800	Enhancers	HMEC	breast
7	chr9:78828400-78831800	Enhancers	HSMM	muscle
8	chr9:78828600-78831800	Enhancers	NHEK	skin
9	chr9:78828600-78834200	Enhancers	NH-A	brain
10	chr9:78828800-78833800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:78828800-78834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:78829000-78831800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:78829200-78832000	Weak transcription	Fetal Intestine Large	intestine
14	chr9:78829200-78832200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:78829400-78831600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:78829400-78831800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:78829400-78832200	Enhancers	NHLF	lung
18	chr9:78829600-78831800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:78829600-78831800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:78829600-78831800	Enhancers	Osteobl	bone
21	chr9:78829800-78831800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:78829800-78831800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:78829800-78832200	Enhancers	HUVEC	blood vessel
24	chr9:78829800-78834200	Enhancers	HSMMtube	muscle
25	chr9:78830200-78831600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr9:78830200-78831800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr9:78830200-78833800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:78830400-78833600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:78830600-78832600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:78830800-78831600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr9:78830800-78842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:78831000-78831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr9:78831200-78832600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:78831200-78832800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:78831200-78834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:78831400-78832200	Weak transcription	Fetal Intestine Small	intestine

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