Variant report

Variant	rs60905338
Chromosome Location	chr2:235113342-235113343
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12053283	1.00[EUR][1000 genomes]
rs16850620	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16850622	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57330464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121253	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235109200-235114000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:235110400-235113800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:235110600-235114200	Enhancers	NHEK	skin
4	chr2:235111200-235114400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:235111400-235113800	Enhancers	HMEC	breast
6	chr2:235111400-235114000	Enhancers	HUVEC	blood vessel
7	chr2:235111600-235113600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:235111600-235113800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:235111600-235114200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:235112000-235113800	Enhancers	Osteobl	bone
11	chr2:235112200-235113800	Enhancers	NH-A	brain
12	chr2:235112200-235113800	Enhancers	NHDF-Ad	bronchial
13	chr2:235112600-235115000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:235112800-235120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:235113000-235113400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:235113000-235114600	Enhancers	A549	lung

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