Variant report

Variant	rs1521042
Chromosome Location	chr2:67675400-67675401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11891847	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12162395	0.85[ASN][1000 genomes]
rs12470069	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13424211	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17033603	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17033629	0.90[EUR][1000 genomes]
rs28703073	1.00[ASN][1000 genomes]
rs56225803	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58738043	0.97[ASN][1000 genomes]
rs62156701	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546309	0.97[ASN][1000 genomes]
rs6731529	0.97[ASN][1000 genomes]
rs7606757	1.00[ASN][1000 genomes]
rs901319	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3418230	chr2:67674648-67676646	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67664600-67678400	Weak transcription	Aorta	Aorta
2	chr2:67674000-67675600	Weak transcription	Fetal Heart	heart
3	chr2:67674200-67678600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:67674400-67678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67674600-67675600	Weak transcription	NHEK	skin
6	chr2:67674600-67675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:67674600-67675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:67674600-67678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:67674600-67678400	Weak transcription	NH-A	brain
10	chr2:67674800-67675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:67674800-67675800	Weak transcription	HMEC	breast
12	chr2:67674800-67676000	Weak transcription	Hela-S3	cervix
13	chr2:67675000-67678400	Weak transcription	A549	lung
14	chr2:67675200-67675600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:67675200-67676000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

Quick Search:

Input of quick search could be:

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

what's new

Quick links