Variant report

Variant	rs288147
Chromosome Location	chr5:107390303-107390304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10035292	0.89[CHB][hapmap]
rs11242662	0.90[CHB][hapmap]
rs15158	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs158172	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs158173	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs158285	0.93[ASN][1000 genomes]
rs158415	0.90[CHB][hapmap]
rs158609	0.81[TSI][hapmap]
rs188274	0.97[ASN][1000 genomes]
rs286741	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs286743	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs286744	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs286749	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs286750	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs286753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs286776	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs286777	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs286779	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs286781	0.91[ASN][1000 genomes]
rs286794	0.90[CHB][hapmap]
rs286802	0.87[JPT][hapmap]
rs286809	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs286818	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs288131	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs288139	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs288143	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.98[ASN][1000 genomes]
rs288144	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs288145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288149	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288151	0.99[ASN][1000 genomes]
rs288152	0.99[ASN][1000 genomes]
rs288154	0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs288157	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs288161	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs288164	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288168	0.84[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288169	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288170	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs288171	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs288172	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288180	0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.87[MKK][hapmap];0.83[ASN][1000 genomes]
rs288183	0.84[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs288228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs288232	0.94[ASN][1000 genomes]
rs288237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288238	0.90[ASN][1000 genomes]
rs289227	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs289228	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs289230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34383	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs34415	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs34428	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs34432	0.85[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs365981	0.87[ASN][1000 genomes]
rs370216	1.00[ASN][1000 genomes]
rs372894	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs406139	0.87[ASN][1000 genomes]
rs41129	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs41131	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs457378	0.85[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs4957738	0.89[CHB][hapmap]
rs7728371	0.90[CHB][hapmap]

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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs288147	UNC80	trans	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107383400-107396400	Weak transcription	Right Ventricle	heart
2	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:107389200-107390600	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr5:107389400-107390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:107389600-107390400	ZNF genes & repeats	Aorta	Aorta
6	chr5:107389600-107390600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:107389600-107390800	Enhancers	Dnd41	blood
8	chr5:107390000-107390400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr5:107390000-107390400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr5:107390000-107390400	ZNF genes & repeats	Liver	Liver
11	chr5:107390000-107390400	ZNF genes & repeats	Fetal Muscle Leg	muscle
12	chr5:107390000-107390400	ZNF genes & repeats	Fetal Stomach	stomach
13	chr5:107390000-107390600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:107390000-107390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:107390000-107390600	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr5:107390000-107390600	ZNF genes & repeats	Left Ventricle	heart
17	chr5:107390000-107396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:107390200-107390400	ZNF genes & repeats	Pancreas	Pancrea
19	chr5:107390200-107390600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr5:107390200-107390600	ZNF genes & repeats	Gastric	stomach

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