Variant report

Variant	rs4242793
Chromosome Location	chr10:5523600-5523601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10450530	1.00[AMR][1000 genomes]
rs10450531	1.00[AMR][1000 genomes]
rs4415657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4880730	1.00[AMR][1000 genomes]
rs56724201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56959063	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58833507	1.00[AMR][1000 genomes]
rs59584726	1.00[AMR][1000 genomes]
rs59841593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60653996	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7904871	1.00[AMR][1000 genomes]
rs7922103	1.00[AMR][1000 genomes]
rs9423432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894797	chr10:5499173-5558349	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894799	chr10:5511869-5558349	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr10:5511400-5527000	Weak transcription	Spleen	Spleen
2	chr10:5517200-5523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5518400-5523600	Enhancers	Placenta	Placenta
4	chr10:5519600-5524200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:5520000-5528800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:5520000-5530600	Weak transcription	Gastric	stomach
7	chr10:5521600-5524600	Weak transcription	Stomach Mucosa	stomach
8	chr10:5522200-5525400	Enhancers	HepG2	liver
9	chr10:5522400-5527000	Weak transcription	Right Atrium	heart
10	chr10:5522600-5523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:5522800-5527000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:5522800-5527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5523200-5524000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:5523200-5524000	Enhancers	HMEC	breast
15	chr10:5523200-5524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:5523400-5525000	Enhancers	K562	blood
17	chr10:5523400-5525200	Weak transcription	Esophagus	oesophagus
18	chr10:5523600-5527000	Weak transcription	Placenta	Placenta

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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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