Variant report

Variant	rs10001607
Chromosome Location	chr4:56203199-56203200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11133375	0.82[CEU][hapmap]
rs1985606	0.89[CEU][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes]
rs2063577	0.83[EUR][1000 genomes]
rs6813878	0.83[EUR][1000 genomes]
rs6835891	0.85[EUR][1000 genomes]
rs6854287	0.84[ASN][1000 genomes]
rs7664100	0.82[CEU][hapmap]
rs9790808	0.85[CEU][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10001607	TMEM165	cis	parietal	SCAN
rs10001607	TMEM165	cis	cerebellum	SCAN
rs10001607	SRD5A2L	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56201600-56203400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:56201800-56203600	Flanking Active TSS	Dnd41	blood
3	chr4:56202000-56203200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:56202200-56203600	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:56202800-56203800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:56203000-56203400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:56203000-56204200	Weak transcription	Muscle Satellite Cultured Cells	--

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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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