Variant report

Variant	rs13388951
Chromosome Location	chr2:86018569-86018570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
2	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
3	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1055770	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs11679995	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682625	0.86[ASN][1000 genomes]
rs11682709	0.86[ASN][1000 genomes]
rs11691015	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13035450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34027204	0.83[ASN][1000 genomes]
rs34117913	0.83[ASN][1000 genomes]
rs35074676	0.83[ASN][1000 genomes]
rs4832012	1.00[CHB][hapmap]
rs4832013	1.00[CHD][hapmap]
rs4832014	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832194	1.00[CHB][hapmap]
rs4832198	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4832199	1.00[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.83[ASN][1000 genomes]
rs4832201	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974755	0.83[ASN][1000 genomes]
rs71392945	0.83[ASN][1000 genomes]
rs748064	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576412	0.83[ASN][1000 genomes]
rs7609043	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609084	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609441	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13388951	RNF103	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
5	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
6	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
8	chr2:86012000-86019000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:86013400-86019000	Weak transcription	Psoas Muscle	Psoas
11	chr2:86013600-86019000	Weak transcription	NHDF-Ad	bronchial
12	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:86013800-86019200	Weak transcription	HSMMtube	muscle
14	chr2:86014000-86019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:86015200-86020000	Weak transcription	Liver	Liver
19	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
20	chr2:86015400-86018800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
22	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
23	chr2:86016000-86019600	Weak transcription	Gastric	stomach
24	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:86016200-86018800	Weak transcription	Left Ventricle	heart
26	chr2:86016200-86019000	Weak transcription	Pancreas	Pancrea
27	chr2:86016200-86019200	Strong transcription	Fetal Stomach	stomach
28	chr2:86016200-86022600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:86016600-86019000	Weak transcription	Osteobl	bone
30	chr2:86016800-86019000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:86016800-86022000	Enhancers	NHLF	lung
32	chr2:86016800-86023600	Enhancers	Brain Anterior Caudate	brain
33	chr2:86016800-86024400	Enhancers	Fetal Brain Male	brain
34	chr2:86017000-86019000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:86017000-86021200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:86017200-86018600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:86017200-86019000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:86017200-86019200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:86017200-86019200	Genic enhancers	Lung	lung
40	chr2:86017200-86019600	Weak transcription	Fetal Heart	heart
41	chr2:86017200-86020400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr2:86017200-86021200	Enhancers	Brain Hippocampus Middle	brain
43	chr2:86017200-86023400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:86017200-86024600	Enhancers	A549	lung
45	chr2:86017200-86024800	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:86017400-86018600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:86017400-86018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:86017400-86018600	Enhancers	Brain Germinal Matrix	brain
49	chr2:86017400-86019800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:86017400-86020600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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