Variant report

Variant	rs58045596
Chromosome Location	chr8:103803281-103803282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33377872..33378441-chr8:103802745..103803501,2	Hela-S3	cervix:
2	chr8:103779903..103782646-chr8:103802643..103805318,2	MCF-7	breast:
3	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
4	chr8:103797903..103806624-chr8:103818327..103823736,14	K562	blood:
5	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11786374	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680146	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3936370	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822158	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103795200-103804400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103798400-103804200	Enhancers	Placenta	Placenta
3	chr8:103798600-103804200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:103798800-103808600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:103799000-103803800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:103799000-103803800	Enhancers	Left Ventricle	heart
7	chr8:103799000-103804000	Enhancers	Right Atrium	heart
8	chr8:103799000-103804000	Enhancers	HSMMtube	muscle
9	chr8:103799000-103804200	Enhancers	Colon Smooth Muscle	Colon
10	chr8:103799000-103804200	Enhancers	HSMM	muscle
11	chr8:103799200-103804200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:103799400-103811200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:103799600-103811000	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:103799800-103803800	Enhancers	Primary B cells from cord blood	blood
15	chr8:103799800-103803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:103799800-103803800	Enhancers	Stomach Mucosa	stomach
17	chr8:103799800-103803800	Enhancers	HUVEC	blood vessel
18	chr8:103799800-103804000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:103799800-103804000	Enhancers	Fetal Lung	lung
20	chr8:103799800-103804200	Enhancers	Fetal Heart	heart
21	chr8:103799800-103804200	Enhancers	Fetal Intestine Large	intestine
22	chr8:103799800-103804200	Enhancers	Fetal Intestine Small	intestine
23	chr8:103799800-103804200	Enhancers	Fetal Stomach	stomach
24	chr8:103799800-103804200	Enhancers	NHLF	lung
25	chr8:103799800-103804600	Enhancers	HMEC	breast
26	chr8:103799800-103805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:103800000-103803800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:103800000-103804000	Enhancers	NH-A	brain
29	chr8:103800000-103804200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:103800000-103804200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:103800000-103804200	Enhancers	NHDF-Ad	bronchial
32	chr8:103800000-103804200	Enhancers	NHEK	skin
33	chr8:103800200-103803600	Enhancers	GM12878-XiMat	blood
34	chr8:103800200-103803800	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:103800200-103803800	Enhancers	Pancreas	Pancrea
36	chr8:103800200-103804000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:103800200-103804200	Enhancers	Fetal Thymus	thymus
38	chr8:103800200-103804800	Enhancers	Psoas Muscle	Psoas
39	chr8:103800200-103807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:103800400-103803800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:103800400-103804000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:103800400-103804200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:103800400-103804400	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:103800800-103803800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:103800800-103804600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:103801000-103804200	Enhancers	Primary T cells from cord blood	blood
47	chr8:103801200-103803600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:103801200-103804200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:103801400-103804000	Enhancers	Colonic Mucosa	Colon
50	chr8:103801600-103803400	Weak transcription	Gastric	stomach

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