Variant report

Variant	rs551529
Chromosome Location	chr1:175848711-175848712
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175843437..175845524-chr1:175846686..175849178,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPPA2-3	chr1:175847951-175849237	XLOC_000470

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16849335	1.00[EUR][1000 genomes]
rs4652136	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs474868	0.95[ASN][1000 genomes]
rs506265	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516855	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555060	0.95[ASN][1000 genomes]
rs556946	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:23 , 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	chr1:175847800-175849400	Weak transcription	Fetal Brain Female	brain
5	chr1:175847800-175849600	Weak transcription	Fetal Brain Male	brain
6	chr1:175847800-175850800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:175848000-175850200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:175848000-175853400	Weak transcription	Lung	lung
9	chr1:175848200-175850000	Enhancers	Aorta	Aorta
10	chr1:175848200-175850400	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:175848200-175850600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:175848200-175850600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:175848200-175853400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
15	chr1:175848400-175849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:175848400-175850000	Weak transcription	Fetal Intestine Large	intestine
17	chr1:175848400-175850400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:175848400-175853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:175848600-175848800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:175848600-175849000	Weak transcription	Brain Germinal Matrix	brain
22	chr1:175848600-175849000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:175848600-175850400	Weak transcription	Brain Angular Gyrus	brain

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