Variant report

Variant	esv3375261
Chromosome Location	chr11:5225826-5227724
allele	n/a
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	ARID3A	chr11:5226025-5226451	K562	blood:	n/a	n/a
2	ATF1	chr11:5226066-5226378	K562	blood:	n/a	n/a
3	ATF2	chr11:5226032-5226399	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr11:5226014-5226422	K562	blood:	n/a	n/a
5	BHLHE40	chr11:5226138-5226199	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:5226084-5226312	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr11:5226266-5226379	GM12878	blood:	n/a	n/a
8	CTCF	chr11:5226114-5226301	GM10266	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
9	CTCF	chr11:5225819-5226511	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
10	CTCF	chr11:5226140-5226290	HCFaa	heart:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
11	CTCF	chr11:5226140-5226290	WERI-Rb-1	eye:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
12	CTCF	chr11:5226120-5226270	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
13	CTCF	chr11:5226140-5226290	HMEC	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
14	CTCF	chr11:5226162-5226220	Medullo	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
15	CTCF	chr11:5226140-5226290	HBMEC	blood vessel:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
16	CTCF	chr11:5226120-5226270	HCM	heart:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
17	CTCF	chr11:5226260-5226410	HAc	cerebellar:	n/a	n/a
18	CTCF	chr11:5226129-5226285	MCF-7	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
19	CTCF	chr11:5226070-5226345	Gliobla	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
20	CTCF	chr11:5226120-5226270	WI-38	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
21	CTCF	chr11:5226031-5226349	ECC-1	luminal epithelium:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
22	CTCF	chr11:5226088-5226299	GM13977	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
23	CTCF	chr11:5226120-5226270	GM12873	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
24	CTCF	chr11:5225998-5226384	H1-hESC	embryonic stem cell:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
25	CTCF	chr11:5226100-5226250	SAEC	small airway:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
26	CTCF	chr11:5226081-5226325	LNCaP	prostate:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
27	CTCF	chr11:5226118-5226315	ProgFib	skin:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
28	CTCF	chr11:5226120-5226270	GM12878	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
29	CTCF	chr11:5226097-5226312	HepG2	liver:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
30	CTCF	chr11:5226120-5226270	GM12868	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
31	CTCF	chr11:5226120-5226270	RPTEC	kidney:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
32	CTCF	chr11:5226060-5226210	NHDF-neo	bronchial:	n/a	chr11:5226194-5226210 chr11:5226196-5226205
33	CTCF	chr11:5225964-5226405	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
34	CTCF	chr11:5226120-5226270	HUVEC	blood vessel:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
35	CTCF	chr11:5226160-5226310	HUVEC	blood vessel:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
36	CTCF	chr11:5226100-5226250	GM12875	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
37	CTCF	chr11:5226120-5226270	AG04449	skin:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
38	CTCF	chr11:5225800-5226495	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
39	CTCF	chr11:5226120-5226270	AG09319	gingival:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
40	CTCF	chr11:5226144-5226328	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
41	CTCF	chr11:5226080-5226230	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
42	CTCF	chr11:5226040-5226190	MCF-7	breast:	n/a	n/a
43	CTCF	chr11:5226180-5226330	BE2_C	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
44	CTCF	chr11:5226126-5226279	GM13976	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
45	CTCF	chr11:5226059-5226321	SK-N-SH_RA	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
46	CTCF	chr11:5226140-5226290	HEK293	kidney:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
47	CTCF	chr11:5226140-5226290	HPF	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
48	CTCF	chr11:5226100-5226250	GM12864	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
49	CTCF	chr11:5226200-5226350	GM12878	blood:	n/a	n/a
50	CTCF	chr11:5226120-5226270	BJ	skin:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR51B6-1	chr11:5226271-5226317	XLOC_009040

Variant related genes	Relation type
OR51V1	TF binding region
ENSG00000224091	TF binding region
ENSG00000167355	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000176742	chromatin interactions
ENSG00000196565	chromatin interactions
HSPA13	miRNA target sites

Extended variants
information (count: 85 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370699687	chr11:5225828-5225829	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs374695731	chr11:5225901-5225902	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs374092925	chr11:5225903-5225904	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs75255551	chr11:5225912-5225913	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs200543285	chr11:5225914-5225915	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs370163064	chr11:5225917-5225918	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs35764695	chr11:5225933-5225934	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535598704	chr11:5225941-5225942	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs557216359	chr11:5225943-5225944	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs72869810	chr11:5225966-5225967	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368440767	chr11:5225989-5225990	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs184482965	chr11:5226006-5226007	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs189517936	chr11:5226025-5226026	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs149640334	chr11:5226096-5226097	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs561578478	chr11:5226121-5226122	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs373833234	chr11:5226140-5226141	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs528974465	chr11:5226186-5226187	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs546718043	chr11:5226212-5226213	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs374203042	chr11:5226241-5226242	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs146139525	chr11:5226251-5226252	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs553480282	chr11:5226258-5226259	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs560246155	chr11:5226270-5226271	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs531039500	chr11:5226274-5226275	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs552450469	chr11:5226279-5226280	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs386750126	chr11:5226314-5226315	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs534670186	chr11:5226316-5226317	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs113225865	chr11:5226317-5226318	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs201286260	chr11:5226318-5226319	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs7943844	chr11:5226341-5226342	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs535935369	chr11:5226359-5226360	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs181985921	chr11:5226403-5226404	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs12788935	chr11:5226469-5226470	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12788941	chr11:5226471-5226472	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575503234	chr11:5226489-5226490	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs11036245	chr11:5226530-5226531	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs187388300	chr11:5226534-5226535	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs35624669	chr11:5226578-5226579	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs72271448	chr11:5226580-5226581	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs398114987	chr11:5226582-5226583	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs200926189	chr11:5226583-5226584	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs10598663	chr11:5226585-5226586	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545221505	chr11:5226587-5226588	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs35712849	chr11:5226588-5226589	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs71050479	chr11:5226590-5226591	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs190467175	chr11:5226655-5226656	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs550695569	chr11:5226726-5226727	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs140031338	chr11:5226745-5226746	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs181724076	chr11:5226777-5226778	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs12807743	chr11:5226865-5226866	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531002609	chr11:5226890-5226891	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5217600-5226000	Weak transcription	NHLF	lung
2	chr11:5223000-5229600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5224200-5226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:5225200-5231600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:5225400-5226400	Enhancers	K562	blood
6	chr11:5226000-5226200	Enhancers	NHLF	lung
7	chr11:5226000-5226400	Enhancers	Osteobl	bone
8	chr11:5226400-5227600	Weak transcription	K562	blood
9	chr11:5227600-5228400	Enhancers	K562	blood

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