Variant report

Variant	rs1737319
Chromosome Location	chr6:163796510-163796511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163790875..163792483-chr6:163795194..163796907,2	K562	blood:
2	chr6:163764450..163766246-chr6:163795182..163797686,2	K562	blood:
3	chr6:163795985..163798916-chr6:163834719..163837021,2	K562	blood:
4	chr6:163795985..163800346-chr6:163833926..163837021,4	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1148	0.89[TSI][hapmap]
rs11760168	0.84[ASN][1000 genomes]
rs11962088	0.86[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11964436	0.81[ASN][1000 genomes]
rs1336223	0.90[ASN][1000 genomes]
rs1336224	0.90[ASN][1000 genomes]
rs1336225	0.90[ASN][1000 genomes]
rs1414724	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1591536	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16894934	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1737320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737321	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1737322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737324	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737326	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737327	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1737328	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1764009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1764010	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1764011	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1764012	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1764013	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1764015	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764019	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064224	0.86[ASN][1000 genomes]
rs2064226	0.90[ASN][1000 genomes]
rs2064227	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2064230	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2064231	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2065857	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2143358	0.84[CHD][hapmap]
rs2294703	0.84[CHD][hapmap]
rs2744419	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2784871	0.81[ASN][1000 genomes]
rs2784872	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2784875	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34979127	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3763197	0.84[CHD][hapmap];0.80[TSI][hapmap]
rs3857504	0.84[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap]
rs3904720	0.84[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes]
rs4263561	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs4709713	0.83[ASN][1000 genomes]
rs4709714	0.92[ASN][1000 genomes]
rs55779730	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56062115	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6455897	0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6908317	0.88[ASN][1000 genomes]
rs6927805	0.90[ASN][1000 genomes]
rs6929436	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6931903	0.84[CHD][hapmap]
rs6939218	0.92[ASW][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs718878	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718879	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73013582	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73013591	0.84[AMR][1000 genomes]
rs7758706	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv970668	chr6:163792636-163802489	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1737319	SYNPR	trans	parietal	SCAN
rs1737319	QKI	Cis_1M	lymphoblastoid	RTeQTL
rs1737319	LOC441177	cis	cerebellum	SCAN
rs1737319	UNC93A	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163794600-163801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:163795200-163800000	Weak transcription	Spleen	Spleen
4	chr6:163796000-163796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163796200-163796800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:163796400-163796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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