Variant report

Variant	rs4283832
Chromosome Location	chr5:115568093-115568094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10037305	0.81[AMR][1000 genomes]
rs10037375	0.89[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs10045681	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10061357	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10064106	0.83[AMR][1000 genomes]
rs10071788	0.94[CEU][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10074715	0.88[CEU][hapmap]
rs10077356	0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10155643	0.83[JPT][hapmap]
rs1031364	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478293	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11241377	0.84[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs11241380	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs11241381	0.83[AMR][1000 genomes]
rs11241382	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11948029	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs12186653	0.80[EUR][1000 genomes]
rs12515329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517505	0.93[MEX][hapmap]
rs12519211	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12520608	0.81[AMR][1000 genomes]
rs12654321	0.83[AMR][1000 genomes]
rs1363481	0.83[AMR][1000 genomes]
rs1363482	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs1382338	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs1382342	0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1478425	0.81[AMR][1000 genomes]
rs1478426	0.94[CEU][hapmap];0.87[GIH][hapmap];0.83[AMR][1000 genomes]
rs1541655	0.84[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs1541656	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1567337	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs1592916	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17138884	0.86[MEX][hapmap]
rs17139224	0.80[MEX][hapmap]
rs17139276	0.83[AMR][1000 genomes]
rs17139457	0.86[MEX][hapmap]
rs1876674	0.86[MEX][hapmap]
rs2112569	0.81[AMR][1000 genomes]
rs2112570	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2112571	0.83[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs2161322	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2161323	0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2218883	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs2218884	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs2292266	0.86[MEX][hapmap]
rs2416437	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs33982461	0.83[AMR][1000 genomes]
rs3822368	0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs4337887	0.81[AMR][1000 genomes]
rs4351192	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4466200	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs4466201	0.93[ASW][hapmap];0.94[CEU][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap]
rs4513731	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4559035	0.81[AMR][1000 genomes]
rs4577737	0.81[AMR][1000 genomes]
rs4593303	0.87[MEX][hapmap]
rs4920910	0.81[AMR][1000 genomes]
rs4921075	0.89[CEU][hapmap]
rs4921082	0.83[AMR][1000 genomes]
rs4921088	0.81[AMR][1000 genomes]
rs55708487	0.81[AMR][1000 genomes]
rs56220729	0.81[AMR][1000 genomes]
rs58910196	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59695753	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6421861	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6594961	0.87[CEU][hapmap]
rs6859410	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6859703	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6867113	0.89[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs6872730	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6872739	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6880295	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6886034	0.89[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs6886322	0.83[AMR][1000 genomes]
rs6886621	0.83[AMR][1000 genomes]
rs7704576	0.81[AMR][1000 genomes]
rs7709377	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs7720475	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7722462	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs7729439	0.81[AMR][1000 genomes]
rs7732727	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs804140	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv527320	chr5:115382097-115573543	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1032531	chr5:115489694-115583800	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv882742	chr5:115489770-115584159	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1021381	chr5:115509949-115568193	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv524812	chr5:115517238-115584159	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1019540	chr5:115526349-115610020	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2752058	chr5:115533065-115605198	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1016585	chr5:115533065-115605455	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1032799	chr5:115533065-115609552	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1016924	chr5:115533065-115610020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv599481	chr5:115540041-115609552	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1028663	chr5:115540586-115586834	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1024670	chr5:115540586-115615459	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv519321	chr5:115541563-115584159	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv462401	chr5:115541563-115609552	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv599482	chr5:115541563-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv521050	chr5:115541563-115617297	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv599483	chr5:115561128-115609552	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv882744	chr5:115561128-115609552	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv882745	chr5:115561128-115616288	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4283832	EPB41L4A	cis	cerebellum	SCAN
rs4283832	COMMD10	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115551800-115576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:115557400-115580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:115557400-115583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:115559200-115578400	Weak transcription	Fetal Lung	lung
5	chr5:115560400-115570400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:115560400-115572600	Weak transcription	Fetal Intestine Small	intestine
7	chr5:115560400-115581000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
9	chr5:115561400-115569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:115561400-115580000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:115561800-115586400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115562400-115572000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:115562400-115589000	Weak transcription	Ovary	ovary
14	chr5:115563400-115571000	Weak transcription	Primary B cells from cord blood	blood
15	chr5:115565200-115569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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