Variant report

Variant	rs318913
Chromosome Location	chr8:50913292-50913293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10112215	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1021202	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1023979	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10435582	0.84[ASN][1000 genomes]
rs10504093	0.81[JPT][hapmap]
rs10957737	0.88[ASN][1000 genomes]
rs10957739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957742	0.86[ASN][1000 genomes]
rs1157932	0.81[JPT][hapmap]
rs11773979	0.84[EUR][1000 genomes]
rs11777957	0.93[JPT][hapmap]
rs11778027	0.84[ASN][1000 genomes]
rs11781675	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11783503	0.89[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];0.87[ASN][1000 genomes]
rs11783631	0.83[CHD][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.83[ASN][1000 genomes]
rs11784278	0.83[ASN][1000 genomes]
rs11784738	0.84[ASN][1000 genomes]
rs12541061	1.00[CEU][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes]
rs12541363	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12541599	0.86[ASN][1000 genomes]
rs12681482	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255224	0.86[ASN][1000 genomes]
rs13264385	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs13266009	0.81[JPT][hapmap]
rs13273334	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1344326	0.89[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1352114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1484805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1484806	0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1484807	1.00[CEU][hapmap];0.82[MKK][hapmap]
rs1484813	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1486256	0.94[JPT][hapmap]
rs1486258	0.85[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs1552316	0.87[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1601298	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs167631	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs178543	0.80[EUR][1000 genomes]
rs186455	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1973259	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2015043	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs203953	0.82[TSI][hapmap]
rs2054743	0.86[CHD][hapmap];0.94[JPT][hapmap]
rs2086888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129161	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2129169	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2170953	0.85[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs2220157	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385554	0.85[CEU][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs2385696	0.81[JPT][hapmap]
rs2385697	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs2385698	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2385699	0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2385700	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2449963	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap]
rs318851	0.81[JPT][hapmap]
rs318853	0.81[JPT][hapmap]
rs318867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs318894	0.90[TSI][hapmap]
rs318902	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs318903	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs318905	0.81[EUR][1000 genomes]
rs318906	0.81[EUR][1000 genomes]
rs318908	0.81[EUR][1000 genomes]
rs318910	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs318911	0.81[EUR][1000 genomes]
rs318912	0.80[EUR][1000 genomes]
rs318915	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs318916	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs318918	1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs318920	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs318923	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3812426	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs4144735	0.93[JPT][hapmap]
rs4242456	0.93[JPT][hapmap]
rs4460388	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs4634657	0.80[ASN][1000 genomes]
rs4873121	0.83[ASN][1000 genomes]
rs4873123	0.93[JPT][hapmap]
rs4873401	0.83[ASN][1000 genomes]
rs59240550	0.83[ASN][1000 genomes]
rs59679832	0.87[ASN][1000 genomes]
rs7010915	0.92[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7014520	0.92[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833019	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7833377	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs900958	0.92[CEU][hapmap]
rs923058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923060	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs931293	0.93[JPT][hapmap]
rs931294	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643685	0.82[EUR][1000 genomes]
rs9643689	0.87[JPT][hapmap]
rs9643692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs971926	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs993553	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3692982	chr8:50875494-50959622	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023258	chr8:50877934-50964286	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv818624	chr8:50882830-50945075	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv1795686	chr8:50906474-50921942	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs318913	ST18	cis	parietal	SCAN
rs318913	SNORD115-44	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50911600-50913800	Enhancers	Brain Germinal Matrix	brain
2	chr8:50911800-50913600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50911800-50914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:50911800-50914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:50912000-50914000	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:50912000-50914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:50912400-50913400	Enhancers	Fetal Brain Male	brain
8	chr8:50912400-50914600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:50912600-50913400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:50912600-50913800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:50912600-50914600	Enhancers	Liver	Liver

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