Variant report

Variant	rs9600504
Chromosome Location	chr13:76190477-76190478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10162224	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617067	0.92[EUR][1000 genomes]
rs2274046	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274047	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274048	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4885329	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885335	0.96[ASN][1000 genomes]
rs8001729	0.90[ASN][1000 genomes]
rs8192757	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192761	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318359	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318360	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318362	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530449	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530451	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530452	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543963	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543964	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543967	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543983	0.93[EUR][1000 genomes]
rs9543986	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9543991	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543995	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544001	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544003	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544006	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544007	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573582	0.96[ASN][1000 genomes]
rs9573595	0.96[ASN][1000 genomes]
rs9593092	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600494	0.92[EUR][1000 genomes]
rs9600498	1.00[ASN][1000 genomes]
rs9600508	0.96[EUR][1000 genomes];1.00[ASN][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	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9600504	UCHL3	cis	Artery Tibial	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
3	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:76144000-76192400	Weak transcription	NHLF	lung
5	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:76148200-76192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr13:76149800-76209600	Weak transcription	Lung	lung
10	chr13:76158400-76192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:76158600-76191400	Weak transcription	Fetal Intestine Small	intestine
12	chr13:76158600-76195200	Weak transcription	NHEK	skin
13	chr13:76159000-76194600	Weak transcription	HUVEC	blood vessel
14	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:76159200-76191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
17	chr13:76164600-76192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:76164600-76194600	Weak transcription	Aorta	Aorta
19	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
20	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
22	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:76174600-76198200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
25	chr13:76175800-76191000	Weak transcription	HSMMtube	muscle
26	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
27	chr13:76177600-76191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:76177600-76191400	Weak transcription	Fetal Intestine Large	intestine
29	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
30	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
31	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
33	chr13:76180800-76204600	Weak transcription	Dnd41	blood
34	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
36	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:76181000-76191000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr13:76181000-76191400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:76181000-76194600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
41	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:76181200-76192200	Weak transcription	Thymus	Thymus
44	chr13:76181200-76194400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:76181200-76198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:76181400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
50	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood

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