Variant report

Variant	rs703618
Chromosome Location	chr12:104021263-104021264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

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];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2673654	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703616	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	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.98[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]
rs703623	0.84[CHB][hapmap];0.91[MEX][hapmap]
rs703624	0.84[CHB][hapmap];0.96[MEX][hapmap]
rs703625	0.92[ASW][hapmap];0.84[CHB][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes]
rs831684	0.90[AMR][1000 genomes];0.99[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
rs703618	TDG	cis	cerebellum	SCAN
rs703618	NT5DC3	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104016000-104022200	Weak transcription	Right Atrium	heart
2	chr12:104020000-104021600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:104020200-104021400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:104020200-104021600	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:104020200-104021600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:104020200-104021600	Enhancers	HSMMtube	muscle
7	chr12:104020200-104022200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:104020400-104022200	Enhancers	Fetal Heart	heart
9	chr12:104020400-104022400	Enhancers	Colon Smooth Muscle	Colon
10	chr12:104020600-104021400	Enhancers	Esophagus	oesophagus
11	chr12:104020600-104021400	Enhancers	Left Ventricle	heart
12	chr12:104020600-104021400	Enhancers	Pancreas	Pancrea
13	chr12:104020600-104021600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:104020600-104021600	Enhancers	Aorta	Aorta
15	chr12:104020600-104021600	Enhancers	Fetal Brain Female	brain
16	chr12:104020600-104021800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:104020800-104021400	Enhancers	Spleen	Spleen
18	chr12:104020800-104021600	Enhancers	Psoas Muscle	Psoas
19	chr12:104021200-104023600	Enhancers	NHEK	skin

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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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