Variant report

Variant	rs519424
Chromosome Location	chr1:175849898-175849899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10798418	0.90[EUR][1000 genomes]
rs4652137	0.96[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs532799	0.84[ASN][1000 genomes]
rs565960	0.89[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	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
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

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	chr1:175845800-175850400	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	chr1:175848200-175850000	Enhancers	Aorta	Aorta
8	chr1:175848200-175850400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:175848200-175850600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:175848200-175850600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:175848200-175853400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:175848400-175850000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:175848400-175850400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:175848400-175853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:175848600-175850400	Weak transcription	Brain Angular Gyrus	brain
18	chr1:175848800-175853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:175849200-175850200	Weak transcription	Brain Germinal Matrix	brain
20	chr1:175849200-175850400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:175849400-175851200	Enhancers	Fetal Brain Female	brain
22	chr1:175849600-175851200	Enhancers	Fetal Brain Male	brain
23	chr1:175849800-175851600	Enhancers	Fetal Thymus	thymus
24	chr1:175849800-175851800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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