Variant report

Variant	rs13183341
Chromosome Location	chr5:75727731-75727732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10045331	1.00[CHD][hapmap]
rs10062226	1.00[CHD][hapmap]
rs10942770	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13157262	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17652073	1.00[CHB][hapmap]
rs34483409	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35145043	0.83[EUR][1000 genomes]
rs35450692	0.87[EUR][1000 genomes]
rs405030	1.00[CHD][hapmap]
rs4314381	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382145	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889168	1.00[CHB][hapmap]
rs7731045	0.89[EUR][1000 genomes]
rs9293683	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293684	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13183341	AP3B1	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75703000-75731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:75703600-75747000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:75711000-75733600	Weak transcription	Thymus	Thymus
4	chr5:75721000-75730200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:75722000-75728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:75722000-75728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:75722000-75729200	Weak transcription	Fetal Kidney	kidney
8	chr5:75722200-75735200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:75722400-75737000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:75722600-75737800	Weak transcription	Stomach Mucosa	stomach
11	chr5:75722800-75767800	Weak transcription	Ovary	ovary
12	chr5:75723000-75729400	Weak transcription	Fetal Stomach	stomach
13	chr5:75724000-75728600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:75724000-75732600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:75724000-75735000	Weak transcription	Primary T cells from cord blood	blood
16	chr5:75724200-75728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:75724200-75728600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:75724200-75729000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:75724200-75738200	Weak transcription	Pancreas	Pancrea
20	chr5:75724200-75748400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:75724400-75728600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:75726000-75728600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:75726200-75728200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:75726200-75728600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:75726200-75744600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:75726400-75728200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:75726400-75728200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:75726400-75728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:75726400-75728400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:75726400-75728600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:75726400-75728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:75726400-75729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:75726600-75728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:75726600-75728400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:75726600-75728600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:75726600-75728600	Weak transcription	HepG2	liver
37	chr5:75726600-75729600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:75726600-75730200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:75727000-75728600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:75727200-75728000	Enhancers	Primary B cells from cord blood	blood
41	chr5:75727200-75728800	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:75727600-75727800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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