Variant report

Variant	rs770979
Chromosome Location	chr3:138835575-138835576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1081429	0.85[AMR][1000 genomes]
rs1092455	0.84[ASN][1000 genomes]
rs10935298	0.81[ASN][1000 genomes]
rs647078	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs647093	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs649829	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs663729	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs770978	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs770980	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3400944	chr3:138832537-138835935	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3370593	chr3:138832762-138835810	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138831000-138836000	Weak transcription	HSMM	muscle
3	chr3:138831200-138835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:138831200-138836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:138831200-138836200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:138831200-138837600	Weak transcription	Ovary	ovary
7	chr3:138831200-138838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:138833200-138838600	Weak transcription	K562	blood
9	chr3:138834600-138835600	Weak transcription	HMEC	breast
10	chr3:138835400-138835600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr3:138835400-138836600	Enhancers	NHDF-Ad	bronchial
12	chr3:138835400-138837000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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