Variant report

Variant	rs7425596
Chromosome Location	chr2:189177128-189177129
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	chr2:189176846..189180605-chr2:189180936..189184581,4	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10175259	0.88[ASN][1000 genomes]
rs10180222	0.93[ASN][1000 genomes]
rs10180687	0.81[ASN][1000 genomes]
rs10193506	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10197499	0.83[EUR][1000 genomes]
rs10210696	0.81[ASN][1000 genomes]
rs1036649	0.81[ASN][1000 genomes]
rs10804020	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931343	0.82[ASN][1000 genomes]
rs10931344	0.82[ASN][1000 genomes]
rs10931346	0.89[EUR][1000 genomes]
rs10931356	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931359	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11900558	0.82[ASN][1000 genomes]
rs12464904	0.83[ASN][1000 genomes]
rs12465164	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12465625	0.89[EUR][1000 genomes]
rs12469904	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12473653	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12474692	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12611919	0.80[EUR][1000 genomes]
rs12613615	0.93[ASN][1000 genomes]
rs12619361	0.93[ASN][1000 genomes]
rs12624002	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693487	0.82[ASN][1000 genomes]
rs12693489	0.93[ASN][1000 genomes]
rs12987194	0.81[ASN][1000 genomes]
rs13008931	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014693	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022513	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1898986	0.81[ASN][1000 genomes]
rs34189381	0.87[ASN][1000 genomes]
rs34445909	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35180255	0.81[EUR][1000 genomes]
rs35365782	0.86[EUR][1000 genomes]
rs35964306	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4261684	0.81[ASN][1000 genomes]
rs4294965	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4361092	0.81[ASN][1000 genomes]
rs4381753	0.90[EUR][1000 genomes]
rs4396679	0.84[EUR][1000 genomes]
rs4402719	0.95[ASN][1000 genomes]
rs4402720	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4413123	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4426503	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430902	0.81[ASN][1000 genomes]
rs4500907	0.82[ASN][1000 genomes]
rs4516391	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4564741	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4591312	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599076	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4610010	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640356	0.81[ASN][1000 genomes]
rs4641903	0.82[ASN][1000 genomes]
rs4666759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667215	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667221	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667222	0.86[EUR][1000 genomes]
rs4992744	0.81[ASN][1000 genomes]
rs59106803	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183206	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183212	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62183213	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434269	0.93[ASN][1000 genomes]
rs6711822	0.85[ASN][1000 genomes]
rs6712056	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719273	0.82[ASN][1000 genomes]
rs67211370	0.85[ASN][1000 genomes]
rs67240894	0.82[ASN][1000 genomes]
rs6724636	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6724867	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744150	0.82[ASN][1000 genomes]
rs6744629	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753371	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7564706	0.83[EUR][1000 genomes]
rs7566619	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574262	0.95[ASN][1000 genomes]
rs7585703	0.95[ASN][1000 genomes]
rs7586390	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7593546	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598279	0.96[ASN][1000 genomes]
rs7598785	0.82[ASN][1000 genomes]
rs7599516	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv431890	chr2:189175905-189202876	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7425596	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
2	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
3	chr2:189168200-189183200	Weak transcription	Ovary	ovary
4	chr2:189168800-189183200	Weak transcription	A549	lung
5	chr2:189169400-189187200	Weak transcription	NHLF	lung
6	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189170600-189183200	Weak transcription	Gastric	stomach
8	chr2:189171600-189179200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:189171600-189179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189172600-189179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:189172800-189182600	Weak transcription	NHDF-Ad	bronchial
12	chr2:189173400-189178400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:189173400-189180000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:189173600-189178600	Weak transcription	HUVEC	blood vessel
15	chr2:189173800-189179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:189174000-189181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:189174600-189178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:189175800-189178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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