Variant report

Variant	rs7582137
Chromosome Location	chr2:189122229-189122230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
2	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10167709	0.85[ASN][1000 genomes]
rs10169317	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170220	0.90[CHD][hapmap];0.93[JPT][hapmap]
rs10174928	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10179504	0.87[ASN][1000 genomes]
rs10180222	0.81[ASN][1000 genomes]
rs10180687	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10185828	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10189376	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199112	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199264	0.89[ASN][1000 genomes]
rs10202605	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206696	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209733	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10210696	1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10211189	0.90[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap]
rs10804020	0.81[JPT][hapmap]
rs10931341	0.88[LWK][hapmap]
rs10931355	0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs10931358	0.91[JPT][hapmap]
rs1125099	0.90[CHD][hapmap];0.92[JPT][hapmap]
rs12151691	0.82[ASN][1000 genomes]
rs12329399	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12619361	0.81[ASN][1000 genomes]
rs12693489	0.82[ASN][1000 genomes]
rs12693498	0.85[ASN][1000 genomes]
rs12987194	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990374	0.85[ASN][1000 genomes]
rs13008931	0.81[JPT][hapmap]
rs13014693	0.81[ASN][1000 genomes]
rs13384413	0.83[ASN][1000 genomes]
rs13388723	0.89[ASN][1000 genomes]
rs13388746	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13389155	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13389879	0.85[ASN][1000 genomes]
rs13397237	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13397399	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13412312	0.89[ASN][1000 genomes]
rs13415123	0.82[ASN][1000 genomes]
rs13420369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423891	0.86[ASN][1000 genomes]
rs13424536	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34209722	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34253555	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737832	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35954758	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35964306	0.81[ASN][1000 genomes]
rs36070354	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3890574	0.94[CEU][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap]
rs4261684	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4274570	0.87[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4337443	0.84[LWK][hapmap]
rs4340469	0.94[CEU][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.80[TSI][hapmap]
rs4349309	0.85[ASN][1000 genomes]
rs4361092	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4381754	0.93[JPT][hapmap]
rs4398237	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4402719	0.81[ASN][1000 genomes]
rs4430902	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4433962	0.83[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs4458180	0.93[CEU][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4513258	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4516391	0.80[JPT][hapmap]
rs4522565	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4592814	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4640356	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666758	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667227	0.94[CEU][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap]
rs4992744	0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58978246	0.82[ASN][1000 genomes]
rs60796263	0.85[ASN][1000 genomes]
rs6434269	0.81[JPT][hapmap]
rs6434273	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66971459	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704814	0.94[CEU][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs6706666	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67086516	0.82[ASN][1000 genomes]
rs67092191	0.89[ASN][1000 genomes]
rs6718697	0.89[YRI][hapmap]
rs6718999	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67240894	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727850	0.94[CEU][hapmap];0.92[JPT][hapmap]
rs6729182	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6737728	0.93[JPT][hapmap]
rs6739162	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6743120	0.94[CEU][hapmap];0.93[JPT][hapmap]
rs6743636	0.90[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap]
rs6744629	0.81[JPT][hapmap]
rs6756220	0.94[CEU][hapmap];0.93[JPT][hapmap]
rs6759539	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759766	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761769	0.94[CEU][hapmap];0.93[JPT][hapmap]
rs67790470	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67798410	0.89[ASN][1000 genomes]
rs67919447	0.89[ASN][1000 genomes]
rs72907672	0.89[ASN][1000 genomes]
rs7420700	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7566619	0.84[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7574262	0.84[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7585703	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7586390	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs7593215	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7593546	0.81[JPT][hapmap]
rs7595327	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs7595377	0.87[CEU][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs7598279	0.82[ASN][1000 genomes]
rs7599516	0.81[ASN][1000 genomes]
rs7606178	0.94[CEU][hapmap];0.93[JPT][hapmap]
rs7607063	0.85[ASN][1000 genomes]
rs9288157	0.84[ASN][1000 genomes]
rs980065	0.84[LWK][hapmap]
rs9808557	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv511165	chr2:189112811-189122229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3457161	chr2:189117807-189122905	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3522728	chr2:189118457-189122255	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7582137	MYO1B	cis	cerebellum	SCAN
rs7582137	COL3A1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
2	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
3	chr2:189121800-189147800	Weak transcription	K562	blood

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