Variant report

Variant	rs73077780
Chromosome Location	chr1:212817620-212817621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059590	1.00[EUR][1000 genomes]
rs12069714	1.00[EUR][1000 genomes]
rs12075398	1.00[EUR][1000 genomes]
rs12075971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019510	1.00[EUR][1000 genomes]
rs56412520	1.00[EUR][1000 genomes]
rs59478106	1.00[EUR][1000 genomes]
rs60292092	1.00[EUR][1000 genomes]
rs73077781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077794	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 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	chr1:212802600-212822800	Weak transcription	Fetal Kidney	kidney
2	chr1:212812400-212821800	Weak transcription	Fetal Lung	lung
3	chr1:212812800-212819200	Weak transcription	Lung	lung
4	chr1:212814200-212818000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:212814200-212821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:212815800-212818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:212816600-212820400	Enhancers	Fetal Intestine Small	intestine
8	chr1:212816800-212820600	Enhancers	Fetal Intestine Large	intestine
9	chr1:212816800-212821000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212817200-212818200	Enhancers	Fetal Thymus	thymus
11	chr1:212817200-212819400	Enhancers	Left Ventricle	heart
12	chr1:212817400-212817800	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:212817400-212817800	Enhancers	Thymus	Thymus
14	chr1:212817400-212820600	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:212817400-212821000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:212817600-212818200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:212817600-212818200	Enhancers	HUVEC	blood vessel
18	chr1:212817600-212818600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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