Variant report

Variant	rs73830257
Chromosome Location	chr4:79973111-79973112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56307152	1.00[AMR][1000 genomes]
rs56366417	1.00[AMR][1000 genomes]
rs73828210	1.00[AMR][1000 genomes]
rs73828214	1.00[AMR][1000 genomes]
rs73828217	1.00[AMR][1000 genomes]
rs73828218	1.00[AMR][1000 genomes]
rs73830234	1.00[AMR][1000 genomes]
rs73830300	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3448470	chr4:79898340-80026510	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv432614	chr4:79910989-79993822	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79965600-79973200	Weak transcription	K562	blood
2	chr4:79967800-79979600	Weak transcription	Aorta	Aorta
3	chr4:79968000-79973800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:79969800-79973400	Enhancers	Fetal Brain Male	brain
5	chr4:79970000-79975000	Weak transcription	Fetal Heart	heart
6	chr4:79970400-79978200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:79970400-79978600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:79971800-79973600	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:79972800-79973200	Enhancers	Fetal Stomach	stomach
10	chr4:79973000-79973200	Enhancers	Fetal Brain Female	brain
11	chr4:79973000-79973600	Enhancers	Colon Smooth Muscle	Colon

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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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