Variant report

Variant	rs10943632
Chromosome Location	chr6:80015761-80015762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12526210	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2095395	0.86[ASN][1000 genomes]
rs2152033	0.85[ASN][1000 genomes]
rs2322222	0.87[CHD][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs2322223	0.85[ASN][1000 genomes]
rs2322225	0.85[ASN][1000 genomes]
rs2322231	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3747764	0.85[ASN][1000 genomes]
rs3747765	0.84[ASN][1000 genomes]
rs4409152	0.87[ASN][1000 genomes]
rs4706767	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];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706768	0.87[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs4706774	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9294141	0.83[ASN][1000 genomes]
rs9341770	0.85[ASN][1000 genomes]
rs9350808	0.84[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10943632	PHIP	cis	parietal	SCAN
rs10943632	TTK	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80010400-80021000	Weak transcription	Gastric	stomach
2	chr6:80012600-80016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:80012800-80017000	Weak transcription	NHEK	skin
4	chr6:80012800-80017200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:80012800-80017200	Weak transcription	HMEC	breast
6	chr6:80012800-80018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:80013200-80017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:80014000-80016800	Weak transcription	Placenta	Placenta

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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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