Variant report

Variant	rs735248
Chromosome Location	chr8:118725496-118725497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11775755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34003801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876383	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4876734	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6998416	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7018293	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs729929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
2	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:118722400-118726000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:118722400-118726000	Enhancers	HMEC	breast
5	chr8:118722400-118726200	Enhancers	NHEK	skin
6	chr8:118722600-118725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:118723200-118726400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:118724000-118726800	Enhancers	Fetal Lung	lung
9	chr8:118724400-118725600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:118724400-118726400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:118724400-118726600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:118724600-118725600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:118724600-118726000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:118724600-118726200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:118724600-118726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:118724600-118726200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:118724600-118726200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:118724600-118726200	Enhancers	NHLF	lung
19	chr8:118724600-118726400	Enhancers	HSMMtube	muscle
20	chr8:118724800-118725600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:118724800-118726200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:118724800-118726200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:118724800-118726200	Enhancers	NHDF-Ad	bronchial
24	chr8:118724800-118726400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:118724800-118726400	Enhancers	HSMM	muscle
26	chr8:118725000-118725600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:118725200-118725600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:118725200-118726200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:118725200-118726200	Enhancers	Fetal Kidney	kidney
30	chr8:118725200-118726200	Enhancers	Osteobl	bone
31	chr8:118725200-118726400	Enhancers	Fetal Intestine Large	intestine
32	chr8:118725200-118726400	Enhancers	Placenta	Placenta
33	chr8:118725200-118726400	Enhancers	Fetal Stomach	stomach
34	chr8:118725200-118726600	Enhancers	Ovary	ovary
35	chr8:118725400-118725600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr8:118725400-118725600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:118725400-118725600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:118725400-118725800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:118725400-118725800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:118725400-118725800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:118725400-118726000	Enhancers	HepG2	liver
42	chr8:118725400-118726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:118725400-118726200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:118725400-118726200	Enhancers	Fetal Intestine Small	intestine
45	chr8:118725400-118726200	Enhancers	Stomach Mucosa	stomach
46	chr8:118725400-118726400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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