Variant report

Variant	rs954978
Chromosome Location	chr1:175853645-175853646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10913096	0.82[ASN][1000 genomes]
rs11584930	0.82[EUR][1000 genomes]
rs11801359	0.92[EUR][1000 genomes]
rs12405136	0.86[EUR][1000 genomes]
rs12729379	0.86[EUR][1000 genomes]
rs12732415	0.83[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2030558	0.84[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2140169	0.82[ASN][1000 genomes]
rs28672898	0.81[ASN][1000 genomes]
rs34441614	0.81[EUR][1000 genomes]
rs6656281	0.88[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs7545971	0.83[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:175843000-175855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:175847600-175857000	Weak transcription	Fetal Lung	lung
3	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
4	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:175851000-175854000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:175851200-175853800	Weak transcription	Fetal Brain Female	brain
7	chr1:175851200-175854400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:175851200-175854400	Weak transcription	Fetal Brain Male	brain
9	chr1:175851800-175854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:175851800-175854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:175851800-175857400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:175852600-175855200	Enhancers	Aorta	Aorta
13	chr1:175852600-175855400	Enhancers	Brain Angular Gyrus	brain
14	chr1:175853000-175855400	Enhancers	Brain Hippocampus Middle	brain
15	chr1:175853200-175855800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:175853200-175857600	Enhancers	Brain Substantia Nigra	brain
17	chr1:175853400-175853800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:175853400-175855200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:175853400-175855200	Enhancers	Brain Anterior Caudate	brain
20	chr1:175853400-175855400	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:175853400-175855400	Enhancers	Lung	lung
22	chr1:175853400-175855800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:175853600-175855400	Enhancers	Fetal Stomach	stomach
24	chr1:175853600-175858000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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