Variant report

Variant	rs546718043
Chromosome Location	chr11:5226212-5226213
allele	A/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	chr11:5225998-5226384	H1-hESC	embryonic stem cell:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
2	NRF1	chr11:5226134-5226329	GM12878	blood:	n/a	n/a
3	CTCF	chr11:5226060-5226369	HUVEC	blood vessel:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
4	CTCF	chr11:5226070-5226345	Gliobla	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
5	CTCF	chr11:5226140-5226290	HCFaa	heart:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
6	CTCF	chr11:5226116-5226287	SK-N-SH_RA	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
7	CTCF	chr11:5226126-5226279	GM13976	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
8	CTCF	chr11:5226180-5226297	GM19238	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
9	CTCF	chr11:5226120-5226270	NB4	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
10	RAD21	chr11:5225913-5226520	HCT-116	colon:	n/a	chr11:5226194-5226213
11	EP300	chr11:5226015-5226434	K562	blood:	n/a	n/a
12	EGR1	chr11:5225981-5226263	K562	blood:	n/a	chr11:5226114-5226125
13	CTCF	chr11:5225990-5226385	HepG2	liver:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
14	CTCF	chr11:5226086-5226324	GM12878	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
15	CTCF	chr11:5226089-5226349	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
16	SMC3	chr11:5225918-5226503	SK-N-SH	brain:	n/a	chr11:5226195-5226209
17	CTCF	chr11:5226120-5226270	Caco-2	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
18	CTCF	chr11:5226120-5226270	GM12801	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
19	CTCF	chr11:5226144-5226328	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
20	RAD21	chr11:5225990-5226380	SK-N-SH_RA	brain:	n/a	chr11:5226194-5226213
21	CTCF	chr11:5225999-5226409	GM12878	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
22	CTCF	chr11:5226140-5226290	HMEC	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
23	CTCF	chr11:5226144-5226295	GM19239	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
24	CTCF	chr11:5226200-5226350	GM12878	blood:	n/a	n/a
25	RAD21	chr11:5225908-5226511	HCT-116	colon:	n/a	chr11:5226194-5226213
26	CTCF	chr11:5226144-5226301	Fibrobl	skin:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
27	CTCF	chr11:5226140-5226290	HPF	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
28	CTCF	chr11:5226100-5226250	WI-38	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
29	JUND	chr11:5226049-5226435	K562	blood:	n/a	n/a
30	RCOR1	chr11:5226045-5226447	K562	blood:	n/a	n/a
31	GATA2	chr11:5226046-5226451	K562	blood:	n/a	n/a
32	JUN	chr11:5226158-5226243	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:5225766-5226490	SK-N-SH	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
34	CTCF	chr11:5226080-5226230	HCM	heart:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
35	CTCF	chr11:5226160-5226310	GM12865	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
36	RAD21	chr11:5225908-5226500	A549	lung:	n/a	chr11:5226194-5226213
37	CTCF	chr11:5226081-5226303	HepG2	liver:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
38	ATF2	chr11:5226032-5226399	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:5226120-5226270	WI-38	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
40	CTCF	chr11:5226150-5226280	GM19240	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
41	CTCF	chr11:5226100-5226250	GM12875	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
42	CTCF	chr11:5226180-5226330	BE2_C	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
43	CTCF	chr11:5226200-5226350	HEEpiC	esophagus:	n/a	n/a
44	SRF	chr11:5225948-5226500	HCT-116	colon:	n/a	n/a
45	CTCF	chr11:5226100-5226250	HL-60	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
46	TAL1	chr11:5226135-5226449	K562	blood:	n/a	n/a
47	CTCF	chr11:5226120-5226270	AG04449	skin:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
48	CTCF	chr11:5226100-5226250	HMF	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
49	CTCF	chr11:5226100-5226250	HVMF	connective:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
50	CTCF	chr11:5226160-5226310	HAc	cerebellar:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205

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
OR51V1	TF binding region
ENSG00000224091	TF binding region
ENSG00000176742	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000167355	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:4 , 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	chr11:5225200-5231600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5225400-5226400	Enhancers	K562	blood
4	chr11:5226000-5226400	Enhancers	Osteobl	bone

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