Variant report

Variant	rs703616
Chromosome Location	chr12:104020232-104020233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1018033	0.81[CEU][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes]
rs1427798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2673654	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703618	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703619	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703623	0.85[CHB][hapmap];0.91[MEX][hapmap]
rs703624	0.85[CHB][hapmap];0.96[MEX][hapmap]
rs703625	0.86[ASW][hapmap];0.85[CHB][hapmap];0.96[MEX][hapmap]
rs703632	0.81[CHB][hapmap]
rs7958947	0.81[CHB][hapmap]
rs831684	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1052275	chr12:104008918-104044241	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs703616	TDG	cis	cerebellum	SCAN
rs703616	NT5DC3	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104011600-104020800	Weak transcription	Spleen	Spleen
2	chr12:104016000-104022200	Weak transcription	Right Atrium	heart
3	chr12:104018000-104020400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:104020000-104021200	Enhancers	HSMM	muscle
5	chr12:104020000-104021600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:104020200-104021000	Enhancers	A549	lung
7	chr12:104020200-104021400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:104020200-104021600	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:104020200-104021600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:104020200-104021600	Enhancers	HSMMtube	muscle
11	chr12:104020200-104022200	Enhancers	Skeletal Muscle Female	skeletal 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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