Variant report

Variant	rs2196154
Chromosome Location	chr2:179179589-179179590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1434087	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28667485	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333988	1.00[JPT][hapmap]
rs334621	1.00[JPT][hapmap]
rs334626	1.00[JPT][hapmap]
rs7571247	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584978	0.95[EUR][1000 genomes];1.00[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179162400-179179800	Weak transcription	Liver	Liver
4	chr2:179164200-179180400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
6	chr2:179171600-179182000	Weak transcription	HSMM	muscle
7	chr2:179171800-179179800	Weak transcription	K562	blood
8	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:179176400-179183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:179179400-179179600	Enhancers	Left Ventricle	heart
11	chr2:179179400-179179600	Enhancers	Psoas Muscle	Psoas
12	chr2:179179400-179179600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:179179400-179180200	Enhancers	Fetal Heart	heart
14	chr2:179179400-179180400	Enhancers	Skeletal Muscle Female	skeletal 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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