Variant report

Variant	rs12443042
Chromosome Location	chr15:56706687-56706688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10220822	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851607	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11071265	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11488881	0.86[ASN][1000 genomes]
rs11632087	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11632091	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12050881	0.86[ASN][1000 genomes]
rs12437466	1.00[CEU][hapmap]
rs12438534	1.00[CEU][hapmap]
rs12438630	1.00[CEU][hapmap]
rs12438639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12439133	1.00[CEU][hapmap]
rs12439245	1.00[CEU][hapmap]
rs12440577	1.00[CEU][hapmap]
rs12441182	1.00[CEU][hapmap]
rs12441309	1.00[CEU][hapmap]
rs12441438	1.00[CEU][hapmap]
rs12443087	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12443429	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs12591109	0.85[ASN][1000 genomes]
rs12591303	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs12593348	0.89[ASN][1000 genomes]
rs12593453	0.84[ASN][1000 genomes]
rs12594941	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap]
rs12595557	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1402173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426065	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16976847	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs16976919	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs17238684	1.00[CEU][hapmap]
rs17238740	1.00[CEU][hapmap]
rs17819426	1.00[CEU][hapmap]
rs17819450	1.00[CEU][hapmap]
rs17819473	1.00[CEU][hapmap]
rs1863427	0.88[ASN][1000 genomes]
rs2162216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2263567	0.85[ASN][1000 genomes]
rs2681977	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2718906	0.81[ASN][1000 genomes]
rs2718927	1.00[CEU][hapmap]
rs2725842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28408704	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28858412	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759868	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs3858883	1.00[CEU][hapmap]
rs4142479	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs58619937	0.87[ASN][1000 genomes]
rs60861096	0.84[ASN][1000 genomes]
rs7177904	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8023554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1545	chr15:56659498-56897381	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1046891	chr15:56659587-56792033	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv471330	chr15:56659709-56896385	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471506	chr15:56659709-56896385	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904246	chr15:56665827-56732192	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv498847	chr15:56667038-56896395	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2525559	chr15:56669294-56897412	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv433294	chr15:56676457-56853535	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3693203	chr15:56676457-56894478	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv35150	chr15:56677730-56896304	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510662	chr15:56686353-56735547	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv9270	chr15:56686946-56760420	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1811649	chr15:56702355-56714618	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3512455	chr15:56704360-56716158	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3512456	chr15:56704910-56716108	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3512457	chr15:56704910-56716108	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv10253	chr15:56705729-56714821	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1811246	chr15:56706004-56714618	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1811623	chr15:56706004-56714618	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56665200-56733400	Weak transcription	Fetal Kidney	kidney
2	chr15:56677600-56709600	Weak transcription	Fetal Lung	lung
3	chr15:56677800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:56686000-56734600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:56690000-56717400	Weak transcription	Dnd41	blood
6	chr15:56690000-56737800	Weak transcription	Stomach Mucosa	stomach
7	chr15:56699200-56717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:56701800-56706800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:56703600-56718000	Weak transcription	Fetal Intestine Large	intestine
10	chr15:56703600-56730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:56704000-56734600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:56704200-56712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:56704800-56708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:56704800-56717800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:56705400-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:56706000-56706800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr15:56706000-56709800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:56706400-56707200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:56706400-56709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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