Variant report

Variant	rs60253877
Chromosome Location	chr2:11077254-11077255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11886386	0.92[ASN][1000 genomes]
rs12328192	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614603	0.83[EUR][1000 genomes]
rs12620687	0.81[EUR][1000 genomes]
rs2084927	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7578164	0.92[ASN][1000 genomes]
rs7603978	0.92[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	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv469438	chr2:11055298-11085744	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv580970	chr2:11055298-11085744	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11070600-11078400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:11070800-11077600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:11072400-11077400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:11074200-11077400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:11074400-11077400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:11074400-11077400	Enhancers	NH-A	brain
7	chr2:11074600-11077400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11074800-11077400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:11075000-11077400	Enhancers	NHDF-Ad	bronchial
10	chr2:11075000-11077400	Enhancers	NHLF	lung
11	chr2:11075000-11077600	Enhancers	HUVEC	blood vessel
12	chr2:11075200-11077400	Enhancers	Hela-S3	cervix
13	chr2:11075400-11077400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr2:11075800-11082800	Weak transcription	Fetal Brain Male	brain
15	chr2:11076600-11077400	Flanking Active TSS	A549	lung
16	chr2:11076600-11087600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11076800-11078800	Enhancers	HepG2	liver
18	chr2:11077000-11079400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:11077000-11080600	Weak transcription	HSMMtube	muscle

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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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