Variant report

Variant	rs12474692
Chromosome Location	chr2:189281629-189281630
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	chr2:189271625..189274546-chr2:189280305..189282747,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10193506	0.82[CEU][hapmap]
rs10804020	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10931346	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs10931356	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931359	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465164	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465625	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12469904	0.81[EUR][1000 genomes]
rs12473653	0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12473872	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12611919	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12624002	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13008931	1.00[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13014693	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13022513	0.81[EUR][1000 genomes]
rs13389155	0.80[CHB][hapmap]
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	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3890574	0.80[CHB][hapmap]
rs4274570	0.87[YRI][hapmap]
rs4340469	0.80[CHB][hapmap];0.87[YRI][hapmap]
rs4381753	0.80[EUR][1000 genomes]
rs4413123	0.84[CEU][hapmap]
rs4426503	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4516391	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4564741	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4591312	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599076	0.81[EUR][1000 genomes]
rs4610010	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4666759	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667215	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4667221	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667222	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs4667227	0.85[CHB][hapmap];0.87[YRI][hapmap]
rs59106803	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62183206	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62183212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6704814	0.85[CHB][hapmap];0.83[YRI][hapmap]
rs6712056	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6724428	0.82[CEU][hapmap]
rs6724636	0.81[EUR][1000 genomes]
rs6724867	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6727850	0.80[CHB][hapmap]
rs6743120	0.80[CHB][hapmap]
rs6744629	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6753371	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs6756220	0.80[CHB][hapmap]
rs6761769	0.84[YRI][hapmap]
rs7425596	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7566619	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7574262	0.85[CHB][hapmap]
rs7586390	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7593546	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7595377	0.82[YRI][hapmap]
rs7606178	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12474692	GULP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
2	chr2:189264000-189283800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:189270600-189285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189270600-189285200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:189271000-189285200	Weak transcription	Fetal Lung	lung
6	chr2:189276200-189284400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:189276200-189285200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:189276400-189289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:189276600-189290800	Weak transcription	Placenta	Placenta
10	chr2:189277000-189289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:189277000-189289600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:189277200-189283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:189277200-189285200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:189277400-189283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:189277400-189283600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189277600-189285200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:189279600-189282200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:189279600-189282600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:189280200-189285200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:189280400-189282600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:189280400-189283000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:189281400-189281800	Enhancers	A549	lung

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