Variant report

Variant	rs57299646
Chromosome Location	chr3:60298473-60298474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10155027	0.95[ASN][1000 genomes]
rs10510837	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17400084	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58921609	0.90[ASN][1000 genomes]
rs6763641	0.97[ASN][1000 genomes]
rs6778121	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6785656	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009971	chr3:60070974-60397331	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010969	chr3:60124962-60425297	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv834708	chr3:60156091-60305452	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2422232	chr3:60192201-60334555	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv876844	chr3:60256485-60362565	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv876845	chr3:60256485-60367607	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1001134	chr3:60262617-60344190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv590394	chr3:60289140-60388900	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60290000-60298800	Weak transcription	Fetal Lung	lung
2	chr3:60293800-60298600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:60295400-60298800	Weak transcription	Fetal Stomach	stomach
4	chr3:60295400-60302000	Weak transcription	Liver	Liver
5	chr3:60295600-60299400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:60296000-60312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:60296200-60298600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:60296400-60298800	Weak transcription	Dnd41	blood
9	chr3:60297400-60299000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:60298000-60298800	Weak transcription	Brain Germinal Matrix	brain
11	chr3:60298200-60298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:60298200-60298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:60298200-60300000	Enhancers	Fetal Heart	heart
14	chr3:60298400-60298600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr3:60298400-60298800	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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