Variant report

Variant	rs993675
Chromosome Location	chr14:39464103-39464104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1002193	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs10129762	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10131369	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs10134166	0.82[AMR][1000 genomes]
rs10134656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10135561	0.87[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs10139666	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140763	0.82[AMR][1000 genomes]
rs10141079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10141924	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs10142117	0.82[AMR][1000 genomes]
rs10142350	0.82[AMR][1000 genomes]
rs10145417	0.82[AMR][1000 genomes]
rs10145476	0.82[AMR][1000 genomes]
rs10148712	0.87[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs10150756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151124	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151960	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1040680	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10467711	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10483543	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1050136	1.00[MEX][hapmap]
rs11622731	0.92[GIH][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs11622968	0.82[AMR][1000 genomes]
rs11623907	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11624584	0.82[AMR][1000 genomes]
rs11625689	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11626002	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs11627264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628480	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11848067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849209	0.82[AMR][1000 genomes]
rs11850579	0.82[AMR][1000 genomes]
rs11851680	0.82[AMR][1000 genomes]
rs12323565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587208	0.85[GIH][hapmap];0.82[AMR][1000 genomes]
rs12590373	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13021	0.87[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs17092044	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17092050	0.82[AMR][1000 genomes]
rs17108596	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108664	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108948	0.82[AMR][1000 genomes]
rs1884384	0.89[CHB][hapmap]
rs2025061	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273592	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs28414518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28470602	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28501673	0.82[AMR][1000 genomes]
rs28583114	0.82[AMR][1000 genomes]
rs28666016	0.82[AMR][1000 genomes]
rs28821293	0.82[AMR][1000 genomes]
rs3896147	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45622837	0.82[AMR][1000 genomes]
rs55672305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55737943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56105133	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56785762	0.86[AMR][1000 genomes]
rs57326310	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57482489	0.82[AMR][1000 genomes]
rs58601678	0.82[AMR][1000 genomes]
rs59465524	0.82[AMR][1000 genomes]
rs7144625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155307	0.82[AMR][1000 genomes]
rs7157092	0.84[ASN][1000 genomes]
rs7159520	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72669386	0.82[ASN][1000 genomes]
rs743223	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs761805	0.82[AMR][1000 genomes]
rs8019396	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926970	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs993675	BRMS1L	cis	cerebellum	SCAN
rs993675	MIPOL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39450000-39465000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:39455600-39464800	Weak transcription	Psoas Muscle	Psoas
3	chr14:39455800-39465200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:39458400-39465000	Enhancers	HUVEC	blood vessel
5	chr14:39459000-39464800	Weak transcription	Right Atrium	heart
6	chr14:39459600-39464600	Weak transcription	Left Ventricle	heart
7	chr14:39459600-39469000	Weak transcription	Stomach Mucosa	stomach
8	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:39462800-39465000	Enhancers	Fetal Lung	lung
10	chr14:39463000-39464600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:39463200-39465200	Enhancers	Fetal Stomach	stomach
12	chr14:39463600-39464800	Enhancers	Brain Hippocampus Middle	brain
13	chr14:39463600-39476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:39463800-39464200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:39463800-39464200	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:39463800-39464400	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:39463800-39464400	Enhancers	Brain Substantia Nigra	brain
19	chr14:39463800-39464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:39463800-39465000	Enhancers	Brain Anterior Caudate	brain
21	chr14:39463800-39465000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:39463800-39465200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:39463800-39465200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr14:39463800-39473200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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