Variant report

Variant	rs189517936
Chromosome Location	chr11:5226025-5226026
allele	A/C
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	chr11:5225998-5226384	H1-hESC	embryonic stem cell:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
2	RAD21	chr11:5225913-5226520	HCT-116	colon:	n/a	chr11:5226194-5226213
3	EP300	chr11:5226015-5226434	K562	blood:	n/a	n/a
4	EGR1	chr11:5225981-5226263	K562	blood:	n/a	chr11:5226114-5226125
5	CTCF	chr11:5225990-5226385	HepG2	liver:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
6	SMC3	chr11:5225918-5226503	SK-N-SH	brain:	n/a	chr11:5226195-5226209
7	RAD21	chr11:5225990-5226380	SK-N-SH_RA	brain:	n/a	chr11:5226194-5226213
8	CTCF	chr11:5225999-5226409	GM12878	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
9	RAD21	chr11:5225908-5226511	HCT-116	colon:	n/a	chr11:5226194-5226213
10	CTCF	chr11:5225766-5226490	SK-N-SH	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
11	RAD21	chr11:5225908-5226500	A549	lung:	n/a	chr11:5226194-5226213
12	SRF	chr11:5225948-5226500	HCT-116	colon:	n/a	n/a
13	RAD21	chr11:5225999-5226311	HepG2	liver:	n/a	chr11:5226194-5226213
14	POLR2A	chr11:5225963-5226132	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr11:5225800-5226495	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
16	RAD21	chr11:5225989-5226449	Hela-S3	cervix:	n/a	chr11:5226194-5226213
17	CTCF	chr11:5225998-5226411	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
18	RAD21	chr11:5226020-5226397	K562	blood:	n/a	chr11:5226194-5226213
19	CTCF	chr11:5225964-5226405	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
20	RAD21	chr11:5225930-5226500	A549	lung:	n/a	chr11:5226194-5226213
21	CTCF	chr11:5226010-5226398	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
22	SMC3	chr11:5226014-5226443	K562	blood:	n/a	chr11:5226195-5226209
23	CTCF	chr11:5225976-5226439	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
24	NR2F2	chr11:5226021-5226455	K562	blood:	n/a	n/a
25	CTCF	chr11:5225819-5226511	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
26	RAD21	chr11:5226009-5226418	H1-hESC	embryonic stem cell:	n/a	chr11:5226194-5226213
27	RAD21	chr11:5225992-5226460	H1-hESC	embryonic stem cell:	n/a	chr11:5226194-5226213
28	RAD21	chr11:5225976-5226444	SK-N-SH_RA	brain:	n/a	chr11:5226194-5226213
29	SMC3	chr11:5226005-5226462	Hela-S3	cervix:	n/a	chr11:5226195-5226209
30	RAD21	chr11:5225928-5226519	MCF-7	breast:	n/a	chr11:5226194-5226213
31	USF1	chr11:5225979-5226440	HCT-116	colon:	n/a	n/a
32	EGR1	chr11:5225969-5226252	K562	blood:	n/a	chr11:5226114-5226125
33	RAD21	chr11:5225967-5226447	H1-hESC	embryonic stem cell:	n/a	chr11:5226194-5226213
34	POLR2A	chr11:5225958-5226059	MCF10A-Er-Src	breast:	n/a	n/a
35	ZNF143	chr11:5225978-5226385	K562	blood:	n/a	n/a
36	EP300	chr11:5225967-5226355	K562	blood:	n/a	n/a
37	ARID3A	chr11:5226025-5226451	K562	blood:	n/a	n/a
38	ATF3	chr11:5226014-5226422	K562	blood:	n/a	n/a
39	CTCF	chr11:5225992-5226422	IMR90	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
40	RAD21	chr11:5225990-5226495	ECC-1	luminal epithelium:	n/a	chr11:5226194-5226213
41	RAD21	chr11:5226012-5226392	A549	lung:	n/a	chr11:5226194-5226213
42	RAD21	chr11:5225978-5226478	IMR90	lung:	n/a	chr11:5226194-5226213
43	RAD21	chr11:5225940-5226464	ECC-1	luminal epithelium:	n/a	chr11:5226194-5226213
44	RAD21	chr11:5225956-5226494	HepG2	liver:	n/a	chr11:5226194-5226213
45	CUX1	chr11:5226017-5226447	K562	blood:	n/a	n/a
46	RAD21	chr11:5225953-5226451	SK-N-SH	brain:	n/a	chr11:5226194-5226213
47	TBL1XR1	chr11:5225952-5226482	K562	blood:	n/a	n/a
48	CTCF	chr11:5225969-5226384	MCF-7	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
49	SMC3	chr11:5225997-5226403	GM12878	blood:	n/a	chr11:5226195-5226209

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5218102..5224405-chr11:5224720..5231093,9	K562	blood:
2	chr11:5224202..5227710-chr11:5524990..5527435,3	K562	blood:

Variant related genes	Relation type
ENSG00000224091	TF binding region
OR51V1	TF binding region
ENSG00000213931	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000176742	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1042613	chr11:5173410-5336839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1051488	chr11:5175477-5258490	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1048593	chr11:5183176-5261470	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1045187	chr11:5183176-5262622	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1052798	chr11:5184546-5269330	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1052750	chr11:5187571-5338802	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv896929	chr11:5192095-5271671	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1049387	chr11:5192334-5231273	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv540941	chr11:5192334-5231273	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038871	chr11:5192334-5301415	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	nsv540942	chr11:5192334-5301415	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv1048355	chr11:5192334-5336839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	esv2752788	chr11:5193410-5226318	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv523914	chr11:5207389-5231565	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv3375261	chr11:5225826-5227724	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5223000-5229600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5224200-5226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:5225200-5231600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:5225400-5226400	Enhancers	K562	blood
5	chr11:5226000-5226200	Enhancers	NHLF	lung
6	chr11:5226000-5226400	Enhancers	Osteobl	bone

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