Variant report

Variant	rs333987
Chromosome Location	chr2:179131807-179131808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13382863	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs333986	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs333988	1.00[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	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	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
2	chr2:179124200-179133200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:179124800-179134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:179126000-179136600	Weak transcription	Aorta	Aorta
5	chr2:179130600-179134600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:179130800-179132000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:179130800-179136000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:179131000-179135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:179131200-179136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:179131200-179136600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:179131200-179136600	Weak transcription	HSMM	muscle
12	chr2:179131400-179133200	Weak transcription	Psoas Muscle	Psoas
13	chr2:179131400-179134400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:179131400-179135600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:179131400-179136600	Weak transcription	HSMMtube	muscle
16	chr2:179131600-179132600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:179131600-179133400	Weak transcription	K562	blood

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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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