Variant report

Variant	rs13248930
Chromosome Location	chr8:125664204-125664205
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125658235..125661140-chr8:125662893..125664695,2	K562	blood:
2	chr8:125654495..125656872-chr8:125662279..125664875,2	K562	blood:
3	chr8:125662862..125664990-chr8:125976076..125978116,2	K562	blood:
4	chr8:125650533..125653150-chr8:125663806..125665478,2	MCF-7	breast:
5	chr8:125662816..125665180-chr8:125675490..125677732,2	K562	blood:
6	chr8:125663736..125665496-chr8:125671253..125674701,3	MCF-7	breast:
7	chr8:125663706..125665321-chr8:125671326..125673228,2	K562	blood:
8	chr8:125663277..125665200-chr8:125679495..125682417,2	K562	blood:
9	chr8:125662479..125664337-chr8:125697312..125699450,2	MCF-7	breast:
10	chr8:125659876..125664799-chr8:125825896..125829544,9	K562	blood:
11	chr8:125661234..125665296-chr8:125825896..125829074,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13258904	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3857946	0.89[MKK][hapmap]
rs71516751	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71516752	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
5	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:125655000-125666800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:125655200-125666400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:125655200-125667400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:125655200-125667400	Weak transcription	NHDF-Ad	bronchial
11	chr8:125656800-125666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:125656800-125666200	Weak transcription	HMEC	breast
13	chr8:125657000-125667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125657000-125667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:125657400-125666000	Weak transcription	HepG2	liver
16	chr8:125658600-125667600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:125659000-125665000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125660000-125664400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:125660200-125664400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:125660200-125664400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:125660400-125664400	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:125660800-125664800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr8:125661000-125664400	Enhancers	Fetal Heart	heart
24	chr8:125661400-125664400	Enhancers	Primary B cells from cord blood	blood
25	chr8:125661600-125664400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:125661600-125667200	Weak transcription	Fetal Intestine Large	intestine
27	chr8:125661800-125666200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:125662000-125666200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:125662000-125666800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:125662000-125666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
32	chr8:125662200-125666200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:125662200-125666400	Weak transcription	NHEK	skin
34	chr8:125662200-125667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125662200-125667600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:125662200-125667800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:125662600-125668600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:125662800-125664400	Enhancers	Primary T cells from cord blood	blood
39	chr8:125662800-125664400	Enhancers	Gastric	stomach
40	chr8:125662800-125666800	Weak transcription	Brain Substantia Nigra	brain
41	chr8:125662800-125667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:125663000-125664400	Enhancers	Fetal Thymus	thymus
43	chr8:125663000-125664400	Flanking Active TSS	K562	blood
44	chr8:125663000-125666200	Weak transcription	Lung	lung
45	chr8:125663000-125666200	Weak transcription	Spleen	Spleen
46	chr8:125663000-125668600	Weak transcription	HUVEC	blood vessel
47	chr8:125663400-125664400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:125663400-125664400	Enhancers	Placenta	Placenta
49	chr8:125663400-125664800	Enhancers	Pancreas	Pancrea
50	chr8:125663600-125665400	Enhancers	Psoas Muscle	Psoas

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