Variant report

Variant	rs17630601
Chromosome Location	chr5:96546318-96546319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96517839..96519465-chr5:96545763..96548016,2	K562	blood:

Variant related genes	Relation type
ENSG00000251513	Chromatin interaction
ENSG00000058729	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10044182	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10070105	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1018058	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10476561	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10476701	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10515256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11743991	0.82[EUR][1000 genomes]
rs11746308	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13162261	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178119	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1423501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423502	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423503	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423504	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423507	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1528593	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1528598	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1528599	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1581662	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17630655	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1845649	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1845652	0.89[CEU][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes]
rs1862593	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874292	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1919246	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081143	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2088150	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2222767	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2463784	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2548419	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2548421	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2548426	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2548427	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2643487	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643490	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643491	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643492	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643493	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643494	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2643495	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643497	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643500	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2643531	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2643532	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2643567	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2697569	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697570	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697575	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697576	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697577	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697578	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2697579	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2697580	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2697581	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2697582	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2697599	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697600	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697601	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697602	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697603	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697604	0.80[EUR][1000 genomes]
rs2697605	0.80[EUR][1000 genomes]
rs2697606	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697610	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2697611	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2697644	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28808625	0.84[ASN][1000 genomes]
rs3108531	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3108532	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34089335	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34122360	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35498938	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36154380	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3891859	0.83[EUR][1000 genomes]
rs4032064	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073423	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869151	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4869154	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869155	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4869324	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56267018	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67340817	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6861811	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721801	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72777631	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72777640	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72777653	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7449164	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7729001	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9314195	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17630601	ARSK	cis	cerebellum	SCAN
rs17630601	MCTP1	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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