Variant report

Variant	rs1160699
Chromosome Location	chr11:5574871-5574872
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	ZNF143	chr11:5574635-5574922	GM12878	blood:	n/a	n/a
2	RAD21	chr11:5574584-5574954	Hela-S3	cervix:	n/a	chr11:5574784-5574791
3	RAD21	chr11:5574560-5574876	ECC-1	luminal epithelium:	n/a	chr11:5574784-5574791
4	CTCF	chr11:5574584-5574970	GM12878	blood:	n/a	n/a
5	CTCF	chr11:5574610-5574952	IMR90	lung:	n/a	n/a
6	RAD21	chr11:5574589-5574919	H1-hESC	embryonic stem cell:	n/a	chr11:5574784-5574791
7	CTCF	chr11:5574860-5575010	BJ	skin:	n/a	n/a
8	SMC3	chr11:5574578-5574925	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:5574760-5574910	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr11:5574760-5574910	HMEC	breast:	n/a	n/a
11	RAD21	chr11:5574521-5575053	HCT-116	colon:	n/a	chr11:5574784-5574791
12	RAD21	chr11:5574688-5574900	K562	blood:	n/a	chr11:5574784-5574791
13	POLR2A	chr11:5574755-5574939	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr11:5574510-5575098	HCT-116	colon:	n/a	n/a
15	RAD21	chr11:5574551-5574973	HepG2	liver:	n/a	chr11:5574784-5574791
16	RAD21	chr11:5574656-5574901	K562	blood:	n/a	chr11:5574784-5574791
17	RAD21	chr11:5574555-5574943	A549	lung:	n/a	chr11:5574784-5574791
18	CTCF	chr11:5574760-5574910	GM12872	blood:	n/a	n/a
19	CTCF	chr11:5574561-5574935	K562	blood:	n/a	n/a
20	CTCF	chr11:5574604-5574967	MCF-7	breast:	n/a	n/a
21	RAD21	chr11:5574400-5575052	HCT-116	colon:	n/a	chr11:5574784-5574791 chr11:5574434-5574443
22	SMC3	chr11:5574550-5574969	GM12878	blood:	n/a	n/a
23	CTCF	chr11:5574689-5574908	LNCaP	prostate:	n/a	n/a
24	RAD21	chr11:5574578-5574934	IMR90	lung:	n/a	chr11:5574784-5574791
25	CTCF	chr11:5574740-5574890	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:5568049..5570731-chr11:5574447..5575969,2	K562	blood:
2	11:5250847-5268367..11:5571131-5578892	K562	blood:
3	chr11:5497248..5498209-chr11:5574259..5575206,2	MCF-7	breast:
4	chr11:5226151..5226732-chr11:5574374..5574907,2	K562	blood:
5	chr11:5497034..5498024-chr11:5574302..5575107,2	K562	blood:

Variant related genes	Relation type
OR52H2P	TF binding region
ENSG00000224091	Chromatin interaction
ENSG00000260629	Chromatin interaction
ENSG00000229988	Chromatin interaction
ENSG00000223609	Chromatin interaction

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

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

rs_ID	r²[population]
rs2342381	1.00[ASN][1000 genomes]
rs61892472	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61894128	1.00[AFR][1000 genomes]
rs7127863	1.00[ASN][1000 genomes]
rs7941976	1.00[ASN][1000 genomes]
rs904376	1.00[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	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv896940	chr11:5535007-5582430	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5563600-5582400	Weak transcription	Aorta	Aorta
2	chr11:5572400-5577800	Weak transcription	K562	blood

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