Variant report

Variant	rs72870355
Chromosome Location	chr11:17568492-17568493
allele	C/T
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	KAP1	chr11:17568321-17569079	HEK293	kidney:	n/a	n/a
2	NFIC	chr11:17568408-17569011	ECC-1	luminal epithelium:	n/a	chr11:17568669-17568685 chr11:17568668-17568685
3	NFIC	chr11:17568379-17569055	ECC-1	luminal epithelium:	n/a	chr11:17568669-17568685 chr11:17568668-17568685
4	ZNF263	chr11:17568435-17569473	HEK293-T-REx	kidney:	n/a	chr11:17568800-17568821 chr11:17568758-17568767 chr11:17568776-17568785 chr11:17569158-17569167
5	HA-E2F1	chr11:17568403-17568949	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17567135..17572180-chr11:17576316..17581948,6	K562	blood:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12272861	0.85[ASN][1000 genomes]
rs1859822	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859823	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756899	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58569858	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102164	0.81[ASN][1000 genomes]
rs72870354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945214	0.81[ASN][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17565800-17571000	Weak transcription	Right Atrium	heart
2	chr11:17566000-17568800	Weak transcription	Esophagus	oesophagus
3	chr11:17566200-17570400	Weak transcription	Pancreas	Pancrea
4	chr11:17566400-17568600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:17566400-17568600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:17566800-17568600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:17567800-17568800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:17568200-17568600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:17568200-17568600	Enhancers	Hela-S3	cervix
10	chr11:17568200-17568800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:17568200-17568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:17568400-17568600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:17568400-17568600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:17568400-17568600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:17568400-17568600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr11:17568400-17568600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr11:17568400-17568600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:17568400-17568600	Enhancers	Brain Germinal Matrix	brain
19	chr11:17568400-17568800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:17568400-17568800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:17568400-17569000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:17568400-17569000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:17568400-17569400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:17568400-17569400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr11:17568400-17569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17568400-17569800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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