Variant report

Variant	rs489389
Chromosome Location	chr1:175850011-175850012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs527449	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551501	0.93[AFR][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:25 , 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	chr1:175845800-175850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:175847600-175857000	Weak transcription	Fetal Lung	lung
4	chr1:175847800-175850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:175848000-175850200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:175848000-175853400	Weak transcription	Lung	lung
7	chr1:175848200-175850400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:175848200-175850600	Weak transcription	Brain Anterior Caudate	brain
9	chr1:175848200-175850600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:175848200-175853400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:175848400-175850400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:175848400-175853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:175848600-175850400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:175848800-175853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:175849200-175850200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:175849200-175850400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:175849400-175851200	Enhancers	Fetal Brain Female	brain
20	chr1:175849600-175851200	Enhancers	Fetal Brain Male	brain
21	chr1:175849800-175851600	Enhancers	Fetal Thymus	thymus
22	chr1:175849800-175851800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:175850000-175850200	Enhancers	Fetal Intestine Large	intestine
24	chr1:175850000-175851200	Enhancers	Dnd41	blood
25	chr1:175850000-175852600	Weak transcription	Aorta	Aorta

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