Variant report

Variant	rs58448442
Chromosome Location	chr11:17569523-17569524
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
OTOG	TF binding region
USH1C	TF binding region
ENSG00000006611	Chromatin interaction
ENSG00000188162	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56189397	1.00[AMR][1000 genomes]
rs57428670	1.00[AMR][1000 genomes]
rs58189579	1.00[AMR][1000 genomes]
rs58422362	1.00[AMR][1000 genomes]
rs60055533	1.00[AMR][1000 genomes]
rs61734214	1.00[AMR][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv7693	chr11:17556788-17601771	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv553586	chr11:17559018-17599093	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17565800-17571000	Weak transcription	Right Atrium	heart
2	chr11:17566200-17570400	Weak transcription	Pancreas	Pancrea
3	chr11:17568400-17569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17568400-17569800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:17568600-17569600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:17568600-17569600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:17568600-17571000	Enhancers	Fetal Intestine Small	intestine
8	chr11:17568800-17569600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:17568800-17569600	Active TSS	Hela-S3	cervix
10	chr11:17569200-17569600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr11:17569200-17569600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:17569200-17569600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:17569200-17572200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:17569200-17576600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:17569400-17569600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
16	chr11:17569400-17569600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:17569400-17569800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr11:17569400-17570000	Enhancers	Fetal Intestine Large	intestine
19	chr11:17569400-17570200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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