Variant report

Variant	rs2967516
Chromosome Location	chr19:36881643-36881644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10403738	0.92[CHB][hapmap]
rs10407850	0.91[CHB][hapmap]
rs10416509	0.92[CHB][hapmap]
rs10416742	0.91[CHB][hapmap]
rs10416925	0.91[CHB][hapmap]
rs12459704	0.91[CHB][hapmap]
rs12461077	0.83[CHB][hapmap]
rs12462725	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17206379	0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2271842	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2857	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2945955	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2945956	0.83[ASN][1000 genomes]
rs2945989	0.84[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2967508	0.84[ASN][1000 genomes]
rs2967511	0.84[ASN][1000 genomes]
rs2967519	0.83[ASN][1000 genomes]
rs3098393	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs4806284	0.92[CHB][hapmap]
rs56378871	0.82[ASN][1000 genomes]
rs61706074	0.84[ASN][1000 genomes]
rs62112631	0.84[ASN][1000 genomes]
rs62112632	0.84[ASN][1000 genomes]
rs62113869	0.82[ASN][1000 genomes]
rs7251745	0.91[CHB][hapmap]
rs7253122	0.81[ASN][1000 genomes]
rs73043845	0.84[ASN][1000 genomes]
rs73043902	0.82[ASN][1000 genomes]
rs8104241	0.82[ASN][1000 genomes]
rs8111860	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2967516	LINC00665	cis	Nerve Tibial	GTEx
rs2967516	ZNF545	cis	multi-tissue	Pritchard
rs2967516	LINC00665	cis	Whole Blood	GTEx
rs2967516	LINC00665	cis	Adipose Subcutaneous	GTEx
rs2967516	CTD-3162L10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36870800-36882400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr19:36877000-36883000	Weak transcription	Brain Angular Gyrus	brain
3	chr19:36878200-36882800	Weak transcription	Fetal Heart	heart
4	chr19:36878600-36883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36880400-36887400	ZNF genes & repeats	Brain Germinal Matrix	brain
6	chr19:36880400-36892800	ZNF genes & repeats	Liver	Liver
7	chr19:36880400-36893200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:36880400-36904600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:36880600-36882800	Weak transcription	Brain Substantia Nigra	brain
10	chr19:36880600-36886600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:36880600-36889000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:36880600-36893000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:36880600-36893200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36880800-36886600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:36880800-36888400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:36881000-36883000	Weak transcription	Fetal Brain Male	brain
17	chr19:36881000-36886600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:36881200-36882400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36881200-36882400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:36881200-36882400	Weak transcription	Dnd41	blood
21	chr19:36881200-36882800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:36881200-36883000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:36881400-36892800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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