Variant report

Variant	rs729929
Chromosome Location	chr8:118724869-118724870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11775755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783888	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11784846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785919	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12542251	0.93[ASN][1000 genomes]
rs13276467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1567303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2136103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs218011	0.93[ASN][1000 genomes]
rs218012	0.93[ASN][1000 genomes]
rs218018	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs218023	0.93[ASN][1000 genomes]
rs2737419	0.93[ASN][1000 genomes]
rs28801782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34003801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4876383	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876734	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6987749	0.98[ASN][1000 genomes]
rs6998416	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7018293	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs735248	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118708600-118725200	Weak transcription	Ovary	ovary
2	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
3	chr8:118714800-118725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:118718000-118725400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118721000-118725400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118722400-118726000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:118722400-118726000	Enhancers	HMEC	breast
8	chr8:118722400-118726200	Enhancers	NHEK	skin
9	chr8:118722600-118725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:118723200-118726400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:118723600-118725200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:118724000-118725200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:118724000-118725400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:118724000-118726800	Enhancers	Fetal Lung	lung
15	chr8:118724200-118725000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:118724400-118725600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:118724400-118726400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:118724400-118726600	Enhancers	Fetal Muscle Leg	muscle
19	chr8:118724600-118725400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:118724600-118725600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:118724600-118726000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:118724600-118726200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:118724600-118726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:118724600-118726200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:118724600-118726200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:118724600-118726200	Enhancers	NHLF	lung
27	chr8:118724600-118726400	Enhancers	HSMMtube	muscle
28	chr8:118724800-118725000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr8:118724800-118725200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:118724800-118725200	Weak transcription	Osteobl	bone
31	chr8:118724800-118725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:118724800-118725600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:118724800-118726200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:118724800-118726200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:118724800-118726200	Enhancers	NHDF-Ad	bronchial
36	chr8:118724800-118726400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:118724800-118726400	Enhancers	HSMM	muscle

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