Variant report

Variant	rs11931577
Chromosome Location	chr4:78335569-78335570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10017843	0.84[GIH][hapmap]
rs1031081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934190	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11936117	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11942781	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs17002675	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17002676	0.82[CHD][hapmap];0.84[GIH][hapmap]
rs2083701	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2119977	0.82[ASN][1000 genomes]
rs72650428	0.86[ASN][1000 genomes]

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	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11931577	SEPT11	cis	cerebellum	SCAN
rs11931577	FGF5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78333400-78336000	Enhancers	Fetal Muscle Leg	muscle
2	chr4:78334200-78336200	Enhancers	Fetal Stomach	stomach
3	chr4:78334400-78335800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:78334800-78335600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:78334800-78335800	Enhancers	Fetal Lung	lung
6	chr4:78335000-78335600	Enhancers	Fetal Kidney	kidney
7	chr4:78335000-78336000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:78335200-78335600	Bivalent Enhancer	HSMMtube	muscle

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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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