Variant report

Variant	rs1882816
Chromosome Location	chr14:78782290-78782291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1004667	0.82[CHB][hapmap];0.81[GIH][hapmap];0.82[TSI][hapmap]
rs10147289	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10147843	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11159350	0.83[GIH][hapmap]
rs11159352	0.83[EUR][1000 genomes]
rs12880553	0.83[EUR][1000 genomes]
rs1523131	0.83[GIH][hapmap]
rs1882812	0.83[GIH][hapmap]
rs2205164	0.83[GIH][hapmap]
rs2365682	0.83[CHB][hapmap];0.89[CHD][hapmap]
rs4903735	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs4903742	0.80[GIH][hapmap]
rs7148087	0.83[EUR][1000 genomes]
rs7158430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021038	0.80[GIH][hapmap]
rs9805887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1054051	chr14:78772614-78805311	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1882816	CNNM1	trans	parietal	SCAN
rs1882816	TSHR	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78769200-78783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:78774600-78782600	Weak transcription	Fetal Brain Male	brain
3	chr14:78779200-78787000	Enhancers	Brain Germinal Matrix	brain
4	chr14:78779400-78786000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:78779600-78782800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:78779600-78783000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:78779800-78782400	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:78780400-78783000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:78780400-78783200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:78780400-78783400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:78780600-78783200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:78780600-78783800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:78780800-78783600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:78780800-78783800	Enhancers	K562	blood
15	chr14:78781000-78783000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:78781000-78783600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:78781200-78783000	Weak transcription	Brain Substantia Nigra	brain
18	chr14:78781600-78782400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:78781600-78782800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:78781600-78783200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:78781800-78782600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:78781800-78783800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:78782000-78783200	Enhancers	Brain Angular Gyrus	brain
24	chr14:78782200-78782600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:78782200-78782800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:78782200-78783000	Enhancers	H1 Cell Line	embryonic stem cell

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