Variant report

Variant	rs12473653
Chromosome Location	chr2:189288305-189288306
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	chr2:189269523..189271101-chr2:189286917..189288426,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10804020	0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931346	0.83[EUR][1000 genomes]
rs10931356	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931359	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12465164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12465625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12469904	0.81[EUR][1000 genomes]
rs12473872	0.90[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs12474692	0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12611919	0.87[EUR][1000 genomes]
rs12624002	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008931	0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13014693	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13022513	0.81[EUR][1000 genomes]
rs28564315	0.82[ASN][1000 genomes]
rs34445909	0.81[EUR][1000 genomes]
rs34778517	0.87[EUR][1000 genomes]
rs35180255	0.86[EUR][1000 genomes]
rs35365782	0.83[EUR][1000 genomes]
rs35964306	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3890574	0.83[ASN][1000 genomes]
rs4426503	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4516391	0.93[JPT][hapmap];0.87[EUR][1000 genomes]
rs4564741	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591312	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4599076	0.81[EUR][1000 genomes]
rs4610010	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666759	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667215	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667221	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667222	0.83[EUR][1000 genomes]
rs4667227	0.81[ASN][1000 genomes]
rs59106803	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59206116	0.82[ASN][1000 genomes]
rs62183206	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183212	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183213	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434269	0.93[JPT][hapmap]
rs6434280	0.82[ASN][1000 genomes]
rs6704814	0.83[ASN][1000 genomes]
rs6712056	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6724636	0.81[EUR][1000 genomes]
rs6724867	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6727850	0.84[ASN][1000 genomes]
rs6732963	0.81[ASN][1000 genomes]
rs6743120	0.84[ASN][1000 genomes]
rs6744629	0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs6753371	0.81[EUR][1000 genomes]
rs6756220	0.84[ASN][1000 genomes]
rs6761769	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs7425596	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7561448	0.84[ASN][1000 genomes]
rs7566619	0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7574262	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7585703	0.93[JPT][hapmap]
rs7586390	0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7593546	0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7595327	0.80[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv274925	chr2:189285245-189291333	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12473653	GULP1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189276400-189289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:189276600-189290800	Weak transcription	Placenta	Placenta
3	chr2:189277000-189289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:189277000-189289600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:189283400-189292200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:189285400-189290800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:189285600-189289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:189285600-189290000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:189285600-189290200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:189285600-189290200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:189285600-189291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189285600-189292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:189285600-189318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:189285800-189290000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:189285800-189318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189287600-189289000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:189287800-189289200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:189287800-189294000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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