Variant report

Variant	rs6495237
Chromosome Location	chr15:77591535-77591536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77585431..77587225-chr15:77589534..77592219,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11072643	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11072653	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1125617	0.85[ASN][1000 genomes]
rs11630689	0.82[ASN][1000 genomes]
rs11632941	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs11632966	0.80[ASN][1000 genomes]
rs11633054	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11636554	0.83[ASN][1000 genomes]
rs11639314	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11853287	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs11853460	0.81[ASN][1000 genomes]
rs11857294	0.93[ASN][1000 genomes]
rs11858641	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1191196	0.95[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs12324627	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12904088	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs12907847	0.80[ASN][1000 genomes]
rs12908262	0.80[ASN][1000 genomes]
rs12909924	0.88[ASN][1000 genomes]
rs12913233	0.87[ASN][1000 genomes]
rs12914128	0.80[ASN][1000 genomes]
rs12914345	0.80[ASN][1000 genomes]
rs12916731	0.81[ASN][1000 genomes]
rs1389436	0.80[ASN][1000 genomes]
rs1446312	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1473922	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1493700	0.80[ASN][1000 genomes]
rs1565756	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1565757	0.80[ASN][1000 genomes]
rs1823100	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2055901	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2175941	0.94[ASN][1000 genomes]
rs28584877	0.90[ASN][1000 genomes]
rs34591043	0.95[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs3743478	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs3743479	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4243045	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4414462	0.83[ASN][1000 genomes]
rs4886850	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4886856	0.81[ASN][1000 genomes]
rs4886858	0.81[ASN][1000 genomes]
rs4886862	0.80[ASN][1000 genomes]
rs4886866	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs62008452	0.94[ASN][1000 genomes]
rs6495240	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs7163503	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7178572	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs8024485	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8030074	0.80[ASN][1000 genomes]
rs8034133	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs8037426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1044270	chr15:77534919-77611256	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542445	chr15:77534919-77611256	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1040430	chr15:77584375-77676957	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6495237	HEXA	cis	cerebellum	SCAN
rs6495237	TSPAN3	cis	cerebellum	SCAN
rs6495237	RRM2B	trans	cerebellum	SCAN
rs6495237	RP11-797A18.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77577200-77619400	Weak transcription	HSMM	muscle
2	chr15:77580800-77592400	Weak transcription	NHDF-Ad	bronchial
3	chr15:77583000-77603600	Weak transcription	Left Ventricle	heart
4	chr15:77586800-77601800	Weak transcription	Stomach Mucosa	stomach
5	chr15:77588600-77603400	Weak transcription	Osteobl	bone

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