Variant report

Variant	rs1995232
Chromosome Location	chr3:157473446-157473447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10936099	0.81[EUR][1000 genomes]
rs11717040	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1499783	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1499784	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1499785	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1499786	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1995235	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2315860	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28887897	0.84[ASN][1000 genomes]
rs4680393	0.84[EUR][1000 genomes]
rs6782050	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6786360	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6790949	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923345	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289990	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9818584	0.84[EUR][1000 genomes]
rs9837835	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv829767	chr3:157306411-157490444	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv592121	chr3:157437068-157593470	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv997770	chr3:157441619-157595315	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1995232	PLCH1	cis	cerebellum	SCAN
rs1995232	POMC	trans	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157471200-157473600	Enhancers	Brain Germinal Matrix	brain
2	chr3:157471200-157474000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:157471600-157473600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:157472800-157474000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:157472800-157474600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:157472800-157476600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:157473000-157475800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:157473400-157473600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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