Variant report

Variant	rs808731
Chromosome Location	chr15:56738794-56738795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1068681	0.98[ASN][1000 genomes]
rs1074018	0.88[ASN][1000 genomes]
rs1087764	0.98[ASN][1000 genomes]
rs1087765	0.98[ASN][1000 genomes]
rs1356863	0.86[JPT][hapmap]
rs1365164	0.86[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs1582756	0.90[ASN][1000 genomes]
rs16976888	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16976893	1.00[ASW][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.90[ASN][1000 genomes]
rs16976896	1.00[ASW][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.90[ASN][1000 genomes]
rs16976920	1.00[GIH][hapmap]
rs2682035	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2682042	0.82[ASN][1000 genomes]
rs2682063	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2682068	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2713901	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs2718931	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs2718940	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2725845	0.94[ASN][1000 genomes]
rs2725866	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.84[MKK][hapmap]
rs2725869	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs28369022	0.90[ASN][1000 genomes]
rs28408440	0.94[ASN][1000 genomes]
rs28545512	0.90[ASN][1000 genomes]
rs28567497	0.90[ASN][1000 genomes]
rs28572531	0.94[ASN][1000 genomes]
rs28609291	0.94[ASN][1000 genomes]
rs28678726	0.94[ASN][1000 genomes]
rs28714692	0.90[ASN][1000 genomes]
rs28721891	0.94[ASN][1000 genomes]
rs28756289	0.90[ASN][1000 genomes]
rs28790092	0.94[ASN][1000 genomes]
rs28790997	0.94[ASN][1000 genomes]
rs28801764	0.94[ASN][1000 genomes]
rs28878210	0.94[ASN][1000 genomes]
rs28895874	0.94[ASN][1000 genomes]
rs3985756	0.92[ASN][1000 genomes]
rs3985760	0.92[ASN][1000 genomes]
rs705451	0.98[ASN][1000 genomes]
rs724099	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs795778	0.94[ASN][1000 genomes]
rs795779	0.94[ASN][1000 genomes]
rs795789	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs795794	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs795795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs795796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs795798	0.92[ASN][1000 genomes]
rs797066	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[MKK][hapmap];0.96[ASN][1000 genomes]
rs811257	0.96[ASN][1000 genomes]
rs9920137	0.92[ASN][1000 genomes]
rs9920629	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	esv2757602	chr15:56736478-56790080	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2760033	chr15:56736478-56790080	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56716000-56756600	Weak transcription	HSMM	muscle
2	chr15:56718600-56756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:56719200-56742400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:56720800-56740600	Weak transcription	GM12878-XiMat	blood
5	chr15:56722800-56746800	Weak transcription	Thymus	Thymus
6	chr15:56723400-56756600	Weak transcription	Fetal Stomach	stomach
7	chr15:56732200-56756800	Weak transcription	Fetal Brain Male	brain
8	chr15:56732800-56742000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:56733000-56739800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:56734800-56751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:56735000-56739600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:56735000-56739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:56735200-56740200	Weak transcription	Osteobl	bone
14	chr15:56735200-56756400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:56735400-56739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:56735400-56756600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:56735600-56756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:56735600-56756600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:56736000-56751200	Weak transcription	Fetal Thymus	thymus
20	chr15:56736400-56755200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:56736800-56754400	Weak transcription	Fetal Kidney	kidney
22	chr15:56738000-56739600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:56738400-56756200	Weak transcription	Fetal Lung	lung
24	chr15:56738600-56743400	Weak transcription	Dnd41	blood

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