Variant report

Variant	rs750782
Chromosome Location	chr20:40711645-40711646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1013596	0.89[ASN][1000 genomes]
rs1126101	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1883380	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs2076247	0.80[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2143004	0.88[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs2425473	0.80[CEU][hapmap]
rs2425475	0.80[CEU][hapmap]
rs3091875	0.83[EUR][1000 genomes]
rs4812576	0.90[ASN][1000 genomes]
rs6102663	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs6130027	0.82[EUR][1000 genomes]
rs722898	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7263976	0.92[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs750782	YWHAB	cis	cerebellum	SCAN
rs750782	DHX35	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40703800-40713200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40710000-40714400	Weak transcription	Fetal Brain Female	brain
4	chr20:40710400-40713000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr20:40710600-40714200	Enhancers	Fetal Stomach	stomach
6	chr20:40710800-40712000	Enhancers	Fetal Kidney	kidney
7	chr20:40710800-40712200	Enhancers	Fetal Lung	lung
8	chr20:40711000-40712200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr20:40711000-40712400	Enhancers	Fetal Muscle Leg	muscle
10	chr20:40711200-40712200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:40711200-40713600	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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