Variant report

Variant	rs12360902
Chromosome Location	chr11:17569392-17569393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17569260-17569410	HCT-116	colon:	n/a	n/a
2	ZNF263	chr11:17568435-17569473	HEK293-T-REx	kidney:	n/a	chr11:17568800-17568821 chr11:17568758-17568767 chr11:17568776-17568785 chr11:17569158-17569167

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17567135..17572180-chr11:17576316..17581948,6	K562	blood:
2	chr11:17563988..17566643-chr11:17568666..17571231,2	MCF-7	breast:

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

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10766410	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7125811	0.84[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12360902	USH1C	cis	lung	GTEx

Chromatin state (count:24 , 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	chr11:17568400-17569400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:17568400-17569400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr11:17568400-17569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17568400-17569800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:17568600-17569400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:17568600-17569600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:17568600-17569600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:17568600-17571000	Enhancers	Fetal Intestine Small	intestine
11	chr11:17568800-17569400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:17568800-17569400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:17568800-17569400	Enhancers	Fetal Heart	heart
14	chr11:17568800-17569600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17568800-17569600	Active TSS	Hela-S3	cervix
16	chr11:17569000-17569400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:17569000-17569400	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr11:17569200-17569400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:17569200-17569400	Enhancers	Brain Germinal Matrix	brain
20	chr11:17569200-17569600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr11:17569200-17569600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:17569200-17569600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:17569200-17572200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:17569200-17576600	Weak transcription	H9 Cell Line	embryonic stem cell

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