Variant report

Variant	rs35331571
Chromosome Location	chr13:50301338-50301339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11148160	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148167	0.86[EUR][1000 genomes]
rs12864534	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12866447	0.86[EUR][1000 genomes]
rs12869900	0.83[EUR][1000 genomes]
rs12875005	0.90[EUR][1000 genomes]
rs12876223	0.80[EUR][1000 genomes]
rs12876889	0.92[EUR][1000 genomes]
rs12877931	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1535543	0.86[EUR][1000 genomes]
rs1575387	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1923730	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2025264	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2146143	0.88[ASN][1000 genomes]
rs34423763	0.92[EUR][1000 genomes]
rs3742095	0.86[EUR][1000 genomes]
rs4643206	0.86[EUR][1000 genomes]
rs4942864	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6561550	0.88[ASN][1000 genomes]
rs6561552	0.88[ASN][1000 genomes]
rs6561553	0.85[ASN][1000 genomes]
rs73192666	0.88[ASN][1000 genomes]
rs7446	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7997798	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942032	0.88[ASN][1000 genomes]
rs9526592	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526595	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9535301	0.96[ASN][1000 genomes]
rs9535302	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535309	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535315	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535326	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9535333	0.86[EUR][1000 genomes]
rs9535339	0.86[EUR][1000 genomes]
rs9568309	0.96[ASN][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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35331571	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs35331571	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50307800	Weak transcription	Gastric	stomach
2	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
4	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
5	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
7	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
8	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:50290000-50304600	Strong transcription	Liver	Liver
10	chr13:50290000-50306200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:50290000-50306800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:50290000-50324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr13:50290200-50304600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:50290200-50316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:50290400-50306800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50290400-50307200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:50290600-50304400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:50290800-50301400	Strong transcription	Placenta	Placenta
20	chr13:50290800-50302600	Strong transcription	Adipose Nuclei	Adipose
21	chr13:50290800-50304200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:50291000-50306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:50291000-50306800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr13:50291200-50301400	Strong transcription	Dnd41	blood
25	chr13:50292600-50301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:50293000-50304200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:50293200-50326000	Weak transcription	Fetal Brain Male	brain
28	chr13:50294200-50305400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:50294200-50315000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:50294200-50324000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr13:50294400-50333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:50294800-50314200	Weak transcription	Stomach Mucosa	stomach
33	chr13:50296200-50307600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:50296200-50330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:50296400-50302000	Weak transcription	Thymus	Thymus
36	chr13:50296400-50307200	Weak transcription	Psoas Muscle	Psoas
37	chr13:50296400-50307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:50296400-50320200	Weak transcription	Spleen	Spleen
39	chr13:50296600-50302200	Weak transcription	K562	blood
40	chr13:50296600-50305800	Weak transcription	A549	lung
41	chr13:50296600-50306000	Weak transcription	NHLF	lung
42	chr13:50296600-50307800	Weak transcription	Brain Substantia Nigra	brain
43	chr13:50296600-50307800	Weak transcription	Lung	lung
44	chr13:50296600-50309000	Weak transcription	Brain Angular Gyrus	brain
45	chr13:50296600-50330400	Weak transcription	Small Intestine	intestine
46	chr13:50296600-50338600	Weak transcription	Ovary	ovary
47	chr13:50296800-50302600	Weak transcription	NH-A	brain
48	chr13:50296800-50315000	Weak transcription	HMEC	breast
49	chr13:50297000-50305600	Weak transcription	HepG2	liver
50	chr13:50297000-50306400	Weak transcription	HUVEC	blood vessel

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