Variant report

Variant	rs10493485
Chromosome Location	chr1:72071129-72071130
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1041676	1.00[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap]
rs10889921	1.00[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs11209800	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11209801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11209829	0.83[LWK][hapmap]
rs12021677	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1213521	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs12139658	0.87[EUR][1000 genomes]
rs12564885	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12742274	0.89[EUR][1000 genomes]
rs12757106	1.00[CEU][hapmap]
rs12757229	1.00[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs1333998	0.87[EUR][1000 genomes]
rs1333999	0.87[EUR][1000 genomes]
rs1334000	1.00[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1334001	0.87[EUR][1000 genomes]
rs1335004	1.00[ASW][hapmap];0.83[LWK][hapmap]
rs1335223	1.00[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1335224	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs1517752	0.85[EUR][1000 genomes]
rs1855647	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2184232	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4649941	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5008343	1.00[ASW][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap]
rs6424431	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6424432	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6424433	0.87[EUR][1000 genomes]
rs6656539	0.87[EUR][1000 genomes]
rs6664443	0.85[EUR][1000 genomes]
rs6668345	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6700555	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7553565	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs928615	0.88[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs951950	0.96[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hemostatic factors and hematological phenotypes	17903294	GWAS catalog

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72054800-72071800	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72055000-72075800	Weak transcription	Stomach Smooth Muscle	stomach

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