Variant report

Variant	rs334038
Chromosome Location	chr2:179092573-179092574
allele	C/G
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:4)

rs_ID	r²[population]
rs334030	0.84[AFR][1000 genomes]
rs334033	0.84[AFR][1000 genomes]
rs334123	0.86[AFR][1000 genomes]
rs656429	0.91[AFR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:179084600-179094800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:179088800-179095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:179089200-179092600	Enhancers	HSMM	muscle
5	chr2:179090200-179094200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:179090600-179094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:179090800-179095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:179091200-179092600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:179091200-179101200	Weak transcription	Psoas Muscle	Psoas
11	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
12	chr2:179091600-179092800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:179091800-179092600	Enhancers	HMEC	breast
14	chr2:179092000-179092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:179092200-179094600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:179092200-179102400	Weak transcription	NHDF-Ad	bronchial
17	chr2:179092400-179094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:179092400-179094200	Weak transcription	NHEK	skin

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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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