Variant report

Variant	rs13030122
Chromosome Location	chr2:38759473-38759474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10164547	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13008970	0.85[EUR][1000 genomes]
rs34092964	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34171322	0.84[EUR][1000 genomes]
rs34655983	0.85[EUR][1000 genomes]
rs35704960	0.85[EUR][1000 genomes]
rs35789272	0.91[EUR][1000 genomes]
rs35803605	0.90[EUR][1000 genomes]
rs56311849	0.85[ASN][1000 genomes]
rs7584547	0.83[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 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	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:38755600-38760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:38755600-38762800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:38755600-38763000	Weak transcription	Esophagus	oesophagus
6	chr2:38755600-38763000	Weak transcription	Pancreas	Pancrea
7	chr2:38756000-38760200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:38756000-38760200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:38756000-38760400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:38756000-38760400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:38756000-38760800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:38756000-38761400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:38756000-38762800	Weak transcription	Right Atrium	heart
14	chr2:38756600-38760000	Weak transcription	NHLF	lung
15	chr2:38756800-38762800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:38757000-38760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	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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