Variant report

Variant	rs1814813
Chromosome Location	chr4:120258207-120258208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10000544	0.81[AMR][1000 genomes]
rs10003567	0.84[AFR][1000 genomes]
rs10003931	0.80[AFR][1000 genomes]
rs10005237	0.82[AFR][1000 genomes]
rs10006192	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10006525	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs10006706	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs10006877	0.89[CEU][hapmap]
rs10012408	0.80[AFR][1000 genomes]
rs10013305	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs10015579	0.85[AMR][1000 genomes]
rs10015965	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10016241	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10017335	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs10019674	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs10022448	0.81[AFR][1000 genomes]
rs10023641	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10024933	0.89[AFR][1000 genomes]
rs10025925	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10028773	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10030660	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs10031483	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs1011054	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs10212714	0.87[AFR][1000 genomes]
rs10212719	0.86[AFR][1000 genomes]
rs10212775	0.84[AFR][1000 genomes]
rs10213158	0.90[AFR][1000 genomes]
rs10213267	0.84[AFR][1000 genomes]
rs10518300	0.83[ASW][hapmap];0.80[CHD][hapmap];0.89[LWK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs10518328	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs10518329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs11098499	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs11098501	0.89[AFR][1000 genomes]
rs11098502	0.89[AFR][1000 genomes]
rs11098506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs11098530	0.89[CEU][hapmap]
rs1155576	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs1155577	0.82[CHD][hapmap]
rs11724409	0.89[AFR][1000 genomes]
rs11726229	0.83[CEU][hapmap]
rs11729521	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs11731571	0.80[CHD][hapmap]
rs11732087	0.84[AFR][1000 genomes]
rs11732686	0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs11734241	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs11935596	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs11944880	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs12498657	0.80[AMR][1000 genomes]
rs12498994	0.89[AFR][1000 genomes]
rs12502393	0.81[AFR][1000 genomes]
rs12502423	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs12502524	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12506421	0.84[AMR][1000 genomes]
rs12506445	0.81[AFR][1000 genomes]
rs12506487	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12506610	0.84[AFR][1000 genomes]
rs12507565	0.89[AFR][1000 genomes]
rs12507964	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs12508504	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs12509621	0.89[AFR][1000 genomes]
rs12510133	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12510138	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs12510269	0.84[AFR][1000 genomes]
rs12511640	0.89[AFR][1000 genomes]
rs12513083	0.89[AFR][1000 genomes]
rs12711071	0.88[ASW][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.84[AFR][1000 genomes]
rs13104219	0.81[CHB][hapmap]
rs13113112	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs13134517	0.81[CHB][hapmap]
rs13134665	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs13139045	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap]
rs13149407	0.84[CEU][hapmap]
rs13435802	0.85[TSI][hapmap]
rs1383532	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs1480931	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs1480933	0.82[CHD][hapmap]
rs1480940	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs1511017	0.89[AFR][1000 genomes]
rs1511018	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs1511019	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs1511025	0.88[ASW][hapmap];0.80[CHD][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.84[AFR][1000 genomes]
rs1546502	0.89[CEU][hapmap]
rs1546503	0.82[AFR][1000 genomes]
rs1546505	0.89[CEU][hapmap];0.83[CHD][hapmap];0.95[TSI][hapmap]
rs1546506	0.82[AFR][1000 genomes]
rs17006190	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs17009144	0.84[AMR][1000 genomes]
rs17049949	0.90[AFR][1000 genomes]
rs1814814	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1980024	0.87[AFR][1000 genomes]
rs1980025	0.83[ASW][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.89[AFR][1000 genomes]
rs1980026	0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs2002047	0.88[AFR][1000 genomes]
rs2002049	0.88[AFR][1000 genomes]
rs2036856	0.88[AFR][1000 genomes]
rs2036857	0.88[AFR][1000 genomes]
rs2036860	0.89[AFR][1000 genomes]
rs2127821	0.88[CEU][hapmap]
rs2136911	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2291185	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs2389803	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs2389809	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs28363929	0.89[AFR][1000 genomes]
rs28369503	0.81[AFR][1000 genomes]
rs28369518	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28373117	0.89[AFR][1000 genomes]
rs28396837	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28437684	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28502463	0.86[AFR][1000 genomes]
rs28546691	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28551750	0.82[AMR][1000 genomes]
rs28572003	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28589345	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28599836	0.82[AMR][1000 genomes]
rs28652763	0.82[AFR][1000 genomes]
rs28713555	0.89[AFR][1000 genomes]
rs28714087	0.82[AFR][1000 genomes]
rs28726222	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2892848	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs2964	0.84[AFR][1000 genomes]
rs34425882	0.85[AFR][1000 genomes]
rs3733519	0.86[CEU][hapmap]
rs3733520	0.89[CEU][hapmap]
rs3733524	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs3749591	0.85[TSI][hapmap]
rs3775841	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs3775843	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775844	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775845	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775848	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3775852	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs3822192	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs3864142	0.81[AFR][1000 genomes]
rs3864144	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3956464	0.82[AFR][1000 genomes]
rs4001390	0.87[AMR][1000 genomes]
rs4107728	0.89[AFR][1000 genomes]
rs4422403	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4443261	0.88[AFR][1000 genomes]
rs6534139	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs6815291	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6824111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6834796	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs6837898	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs6838009	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6843229	0.81[CHB][hapmap]
rs6848389	0.89[CEU][hapmap];0.80[JPT][hapmap];0.87[TSI][hapmap]
rs6849171	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs6849561	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs6849889	0.81[CHD][hapmap];0.85[TSI][hapmap]
rs72676046	0.87[AFR][1000 genomes]
rs7659501	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs7665125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7672129	0.85[AFR][1000 genomes]
rs7672594	0.88[ASW][hapmap];0.80[CHD][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.88[AFR][1000 genomes]
rs7672778	0.88[AFR][1000 genomes]
rs7673476	0.88[AFR][1000 genomes]
rs7681544	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs7687843	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs7688802	0.89[CEU][hapmap];0.80[JPT][hapmap]
rs7689729	0.90[AFR][1000 genomes]
rs7692994	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7695620	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs7699064	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs878372	0.88[ASW][hapmap];0.80[CHD][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.84[AFR][1000 genomes]
rs907204	0.84[AFR][1000 genomes]
rs907205	0.84[AFR][1000 genomes]
rs9991166	0.84[AFR][1000 genomes]
rs9991959	0.88[ASW][hapmap];0.80[CHD][hapmap];0.91[LWK][hapmap];0.92[TSI][hapmap];0.89[AFR][1000 genomes]
rs9995136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9995716	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9996494	0.84[AFR][1000 genomes]
rs9996644	0.83[AFR][1000 genomes]
rs9998585	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs9999724	0.80[CHD][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv964091	chr4:120255342-120290951	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1814813	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs1814813	RP11-384K6.6	cis	Whole Blood	GTEx
rs1814813	QRFPR	cis	parietal	SCAN
rs1814813	RP11-33B1.1	cis	Whole Blood	GTEx
rs1814813	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs1814813	RP11-33B1.1	cis	lung	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120256800-120259000	Enhancers	Spleen	Spleen
2	chr4:120257000-120258400	Enhancers	HMEC	breast
3	chr4:120257600-120258400	Enhancers	NHEK	skin
4	chr4:120257600-120259000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:120257800-120258400	Weak transcription	Left Ventricle	heart
6	chr4:120257800-120258600	Enhancers	HUVEC	blood vessel
7	chr4:120257800-120258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr4:120258000-120258400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:120258000-120259000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr4:120258200-120258600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:120258200-120259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:120258200-120259200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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