Variant report

Variant	rs2029239
Chromosome Location	chr8:48582507-48582508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48576905..48578450-chr8:48580494..48582582,2	K562	blood:
2	chr8:48571519..48573210-chr8:48580961..48583041,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10094128	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10441581	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16930163	0.86[ASN][1000 genomes]
rs2130411	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4594029	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873386	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873478	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873546	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986054	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462209	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7827571	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7830859	0.81[ASN][1000 genomes]
rs7842068	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48573000-48582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:48573200-48589200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:48574200-48589600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:48574400-48591000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:48574800-48588200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:48574800-48588400	Weak transcription	NHLF	lung
8	chr8:48574800-48595800	Weak transcription	Ovary	ovary
9	chr8:48575000-48589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:48576000-48589200	Weak transcription	Esophagus	oesophagus
12	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
13	chr8:48576000-48595800	Weak transcription	Gastric	stomach
14	chr8:48576200-48591200	Weak transcription	Primary T cells from cord blood	blood
15	chr8:48576800-48589400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48576800-48591000	Weak transcription	Pancreas	Pancrea
17	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
18	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
19	chr8:48577000-48589400	Weak transcription	Left Ventricle	heart
20	chr8:48580800-48582800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:48581200-48582800	Enhancers	Osteobl	bone
22	chr8:48581200-48583000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:48581200-48583400	Enhancers	Fetal Heart	heart
24	chr8:48581600-48582800	Enhancers	HMEC	breast
25	chr8:48581600-48583000	Enhancers	Placenta	Placenta
26	chr8:48581800-48582800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:48582000-48583000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:48582000-48589400	Weak transcription	Right Atrium	heart
29	chr8:48582000-48591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
31	chr8:48582200-48582600	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:48582200-48582800	Enhancers	HSMM	muscle
33	chr8:48582200-48583000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:48582200-48584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:48582200-48585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48582200-48587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:48582200-48588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:48582200-48588600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:48582200-48589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:48582200-48591000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:48582200-48594600	Weak transcription	HSMMtube	muscle
42	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:48582400-48585400	Weak transcription	NHEK	skin

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