Variant report

Variant	rs72784606
Chromosome Location	chr5:90196526-90196527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10071548	1.00[ASN][1000 genomes]
rs10942608	1.00[ASN][1000 genomes]
rs11744148	1.00[ASN][1000 genomes]
rs17554631	1.00[ASN][1000 genomes]
rs17624740	1.00[ASN][1000 genomes]
rs2443086	1.00[ASN][1000 genomes]
rs41308293	1.00[ASN][1000 genomes]
rs57218688	1.00[ASN][1000 genomes]
rs62375135	1.00[ASN][1000 genomes]
rs62375138	1.00[ASN][1000 genomes]
rs6875416	1.00[ASN][1000 genomes]
rs73185169	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90192800-90204400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:90192800-90204800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:90194200-90198400	Enhancers	Fetal Intestine Small	intestine
6	chr5:90194400-90198400	Enhancers	Fetal Intestine Large	intestine
7	chr5:90195400-90196600	Enhancers	A549	lung
8	chr5:90195800-90196600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr5:90195800-90197800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:90195800-90198800	Enhancers	HepG2	liver
11	chr5:90195800-90207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:90196400-90196600	Flanking Active TSS	Liver	Liver

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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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