Variant report

Variant	rs4341893
Chromosome Location	chr2:21135577-21135578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10188514	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6734506	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306897	0.87[AMR][1000 genomes];0.90[EUR][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	nsv455841	chr2:21086693-21135577	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv581168	chr2:21086693-21135577	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv455852	chr2:21125742-21143329	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv581169	chr2:21125742-21143329	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4341893	ITGB7	trans	parietal	SCAN
rs4341893	OSR1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21130000-21135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:21131200-21136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:21131600-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:21131600-21136600	Weak transcription	NHEK	skin
5	chr2:21131800-21137000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:21133000-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:21133400-21136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:21133400-21149400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:21134400-21135600	Enhancers	Ovary	ovary
10	chr2:21134400-21135600	Enhancers	Stomach Mucosa	stomach
11	chr2:21134800-21135600	Bivalent Enhancer	HepG2	liver
12	chr2:21135200-21139200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:21135200-21139400	Weak transcription	Rectal Smooth Muscle	rectum

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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

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