Variant report

Variant	rs287119
Chromosome Location	chr5:154434105-154434106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1603404	0.85[JPT][hapmap]
rs188256	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2453756	0.85[JPT][hapmap]
rs286628	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs286632	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs287122	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs287125	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs287126	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs395874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580126	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023588	chr5:154415586-154464455	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs287119	MFAP3	cis	cerebellum	SCAN
rs287119	KIF4B	cis	parietal	SCAN
rs287119	HAVCR1	cis	cerebellum	SCAN
rs287119	HAND1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154432000-154434200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:154432000-154435000	Enhancers	HepG2	liver
3	chr5:154432200-154434200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:154432200-154435600	Enhancers	Fetal Heart	heart
5	chr5:154432400-154434200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:154432400-154437200	Weak transcription	Left Ventricle	heart
7	chr5:154432600-154434200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:154433200-154434600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:154433400-154434200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:154433400-154434400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:154433400-154436200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:154433400-154437200	Weak transcription	Right Ventricle	heart
13	chr5:154434000-154434400	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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