Variant report

Variant	rs13014693
Chromosome Location	chr2:189213721-189213722
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189212933..189215088-chr2:189218654..189220782,2	MCF-7	breast:
2	chr2:189211594..189213777-chr2:189218302..189220048,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10169317	0.81[ASN][1000 genomes]
rs10175259	0.85[ASN][1000 genomes]
rs10180222	0.90[ASN][1000 genomes]
rs10180687	0.84[ASN][1000 genomes]
rs10197499	0.80[EUR][1000 genomes]
rs10199112	0.81[ASN][1000 genomes]
rs10199264	0.81[ASN][1000 genomes]
rs10206696	0.81[ASN][1000 genomes]
rs10210696	0.84[ASN][1000 genomes]
rs10804020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931346	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10931356	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931359	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12465164	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12465625	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469904	0.87[EUR][1000 genomes]
rs12473653	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12474692	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12611919	0.84[EUR][1000 genomes]
rs12613615	0.88[ASN][1000 genomes]
rs12619361	0.90[ASN][1000 genomes]
rs12624002	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693489	0.88[ASN][1000 genomes]
rs12987194	0.84[ASN][1000 genomes]
rs13008931	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022513	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13388723	0.81[ASN][1000 genomes]
rs13412312	0.81[ASN][1000 genomes]
rs13420369	0.81[ASN][1000 genomes]
rs34189381	0.92[ASN][1000 genomes]
rs34445909	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34778517	0.80[EUR][1000 genomes]
rs35180255	0.85[EUR][1000 genomes]
rs35365782	0.90[EUR][1000 genomes]
rs35964306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261684	0.84[ASN][1000 genomes]
rs4294965	0.81[EUR][1000 genomes]
rs4361092	0.84[ASN][1000 genomes]
rs4381753	0.86[EUR][1000 genomes]
rs4396679	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4402719	0.90[ASN][1000 genomes]
rs4402720	0.82[EUR][1000 genomes]
rs4413123	0.81[EUR][1000 genomes]
rs4426503	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4430902	0.84[ASN][1000 genomes]
rs4433962	0.81[ASN][1000 genomes]
rs4516391	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4522565	0.81[ASN][1000 genomes]
rs4564741	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4591312	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4599076	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4610010	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4640356	0.84[ASN][1000 genomes]
rs4666759	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667215	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667221	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667222	0.90[EUR][1000 genomes]
rs4992744	0.84[ASN][1000 genomes]
rs59106803	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183206	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183212	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62183213	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434269	0.88[ASN][1000 genomes]
rs67092191	0.81[ASN][1000 genomes]
rs6711822	0.82[ASN][1000 genomes]
rs6712056	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718999	0.81[ASN][1000 genomes]
rs67211370	0.80[ASN][1000 genomes]
rs67240894	0.82[ASN][1000 genomes]
rs6724636	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6724867	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744629	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6759539	0.81[ASN][1000 genomes]
rs6759766	0.81[ASN][1000 genomes]
rs67790470	0.80[ASN][1000 genomes]
rs67798410	0.81[ASN][1000 genomes]
rs67919447	0.81[ASN][1000 genomes]
rs72907672	0.81[ASN][1000 genomes]
rs7425596	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574262	1.00[ASN][1000 genomes]
rs7582137	0.81[ASN][1000 genomes]
rs7585703	0.90[ASN][1000 genomes]
rs7586390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598279	0.91[ASN][1000 genomes]
rs7599516	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
rs13014693	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189192200-189225200	Weak transcription	Placenta	Placenta
2	chr2:189194600-189218200	Weak transcription	Gastric	stomach
3	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
4	chr2:189200600-189221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:189205200-189228800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:189205600-189215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:189205600-189227400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:189206000-189220400	Weak transcription	Fetal Stomach	stomach
9	chr2:189206200-189218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:189206400-189218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:189209600-189215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:189210200-189217400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:189210200-189224600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:189210400-189214800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:189210400-189225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:189211000-189215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:189211000-189216600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:189211000-189218000	Weak transcription	A549	lung
19	chr2:189211000-189218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:189211000-189220200	Weak transcription	Fetal Lung	lung
21	chr2:189211000-189221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
23	chr2:189212000-189218000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:189212200-189218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:189212600-189216000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:189212600-189218600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:189213400-189214200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:189213600-189214600	Weak transcription	Fetal Brain Male	brain

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