Variant report

Variant	rs62183206
Chromosome Location	chr2:189233550-189233551
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	chr2:189155560..189158939-chr2:189231780..189236991,6	MCF-7	breast:
2	chr2:189156427..189160122-chr2:189230597..189233681,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10167709	0.81[ASN][1000 genomes]
rs10174928	0.81[ASN][1000 genomes]
rs10175259	0.82[ASN][1000 genomes]
rs10180222	0.87[ASN][1000 genomes]
rs10180687	0.80[ASN][1000 genomes]
rs10210696	0.80[ASN][1000 genomes]
rs10804020	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931346	0.82[EUR][1000 genomes]
rs10931355	0.81[ASN][1000 genomes]
rs10931356	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931359	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12329399	0.81[ASN][1000 genomes]
rs12465164	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12465625	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469904	0.84[EUR][1000 genomes]
rs12473653	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12474692	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12611919	0.86[EUR][1000 genomes]
rs12613615	0.84[ASN][1000 genomes]
rs12619361	0.87[ASN][1000 genomes]
rs12624002	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693489	0.84[ASN][1000 genomes]
rs12693498	0.81[ASN][1000 genomes]
rs12987194	0.80[ASN][1000 genomes]
rs12990374	0.81[ASN][1000 genomes]
rs13008931	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13014693	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13022513	0.84[EUR][1000 genomes]
rs13389879	0.81[ASN][1000 genomes]
rs34189381	0.88[ASN][1000 genomes]
rs34445909	0.84[EUR][1000 genomes]
rs34778517	0.83[EUR][1000 genomes]
rs35180255	0.87[EUR][1000 genomes]
rs35365782	0.86[EUR][1000 genomes]
rs35964306	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4261684	0.80[ASN][1000 genomes]
rs4349309	0.81[ASN][1000 genomes]
rs4361092	0.80[ASN][1000 genomes]
rs4381753	0.83[EUR][1000 genomes]
rs4402719	0.87[ASN][1000 genomes]
rs4426503	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4430902	0.80[ASN][1000 genomes]
rs4516391	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4564741	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4591312	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4599076	0.84[EUR][1000 genomes]
rs4610010	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4640356	0.80[ASN][1000 genomes]
rs4666759	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667215	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667221	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667222	0.86[EUR][1000 genomes]
rs4992744	0.80[ASN][1000 genomes]
rs59106803	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60796263	0.81[ASN][1000 genomes]
rs62183212	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62183213	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434269	0.85[ASN][1000 genomes]
rs6712056	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724636	0.84[EUR][1000 genomes]
rs6724867	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739162	0.81[ASN][1000 genomes]
rs6744629	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753371	0.84[EUR][1000 genomes]
rs7420700	0.81[ASN][1000 genomes]
rs7425596	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7566619	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574262	0.97[ASN][1000 genomes]
rs7585703	0.87[ASN][1000 genomes]
rs7586390	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7593215	0.81[ASN][1000 genomes]
rs7593546	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7598279	0.88[ASN][1000 genomes]
rs7599516	0.87[ASN][1000 genomes]
rs7607063	0.81[ASN][1000 genomes]

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	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62183206	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
3	chr2:189217000-189234600	Weak transcription	Psoas Muscle	Psoas
4	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189229200-189243000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:189229400-189234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:189229400-189242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:189230800-189234000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:189230800-189234000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:189230800-189234400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:189230800-189234400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:189230800-189234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:189230800-189239200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:189230800-189248200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:189231000-189234600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:189232200-189234000	Weak transcription	A549	lung
18	chr2:189232200-189234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:189232600-189234400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:189232600-189234600	Weak transcription	Pancreas	Pancrea

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