Variant report

Variant	nsv983172
Chromosome Location	chr11:5226363-5231234
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	CEBPB	chr11:5228170-5228443	K562	blood:	n/a	n/a
6	CEBPB	chr11:5228798-5228866	K562	blood:	n/a	n/a
7	CHD2	chr11:5226266-5226379	GM12878	blood:	n/a	n/a
8	CTCF	chr11:5225990-5226385	HepG2	liver:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
9	CTCF	chr11:5225969-5226384	MCF-7	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
10	CTCF	chr11:5228968-5229036	Lung_OC	lung:	n/a	n/a
11	CTCF	chr11:5226085-5226384	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
12	CTCF	chr11:5226060-5226369	HUVEC	blood vessel:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
13	CTCF	chr11:5226068-5226455	MCF-7	breast:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
14	CTCF	chr11:5225964-5226405	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
15	CTCF	chr11:5226260-5226410	HAc	cerebellar:	n/a	n/a
16	CTCF	chr11:5225998-5226384	H1-hESC	embryonic stem cell:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
17	CTCF	chr11:5225998-5226411	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
18	CTCF	chr11:5226842-5226972	K562	blood:	n/a	n/a
19	CTCF	chr11:5226240-5226390	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:5225976-5226439	K562	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
21	CTCF	chr11:5225999-5226409	GM12878	blood:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
22	CTCF	chr11:5225766-5226490	SK-N-SH	brain:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
23	CTCF	chr11:5225992-5226422	IMR90	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
24	CTCF	chr11:5230220-5230370	HPF	lung:	n/a	n/a
25	CTCF	chr11:5225800-5226495	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
26	CTCF	chr11:5225819-5226511	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
27	CTCF	chr11:5226080-5226380	A549	lung:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
28	CTCF	chr11:5226010-5226398	HCT-116	colon:	n/a	chr11:5226195-5226216 chr11:5226194-5226210 chr11:5226193-5226211 chr11:5226196-5226205
29	CUX1	chr11:5226017-5226447	K562	blood:	n/a	n/a
30	EBF1	chr11:5226144-5226367	GM12878	blood:	n/a	n/a
31	EP300	chr11:5226015-5226434	K562	blood:	n/a	n/a
32	GATA2	chr11:5226124-5226426	HUVEC	blood vessel:	n/a	n/a
33	GATA2	chr11:5226046-5226451	K562	blood:	n/a	n/a
34	JUN	chr11:5229987-5230335	K562	blood:	n/a	n/a
35	JUND	chr11:5228150-5228305	K562	blood:	n/a	n/a
36	JUND	chr11:5226049-5226435	K562	blood:	n/a	n/a
37	MAFK	chr11:5226049-5226428	K562	blood:	n/a	n/a
38	MAX	chr11:5226108-5226408	K562	blood:	n/a	n/a
39	MAZ	chr11:5226058-5226417	K562	blood:	n/a	n/a
40	NR2F2	chr11:5226021-5226455	K562	blood:	n/a	n/a
41	POLR2A	chr11:5229732-5229889	K562	blood:	n/a	n/a
42	POLR2A	chr11:5230858-5230916	K562	blood:	n/a	n/a
43	POLR2A	chr11:5227221-5227291	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:5230306-5230452	K562	blood:	n/a	n/a
45	POLR2A	chr11:5228546-5228847	K562	blood:	n/a	n/a
46	RAD21	chr11:5225928-5226519	MCF-7	breast:	n/a	chr11:5226194-5226213
47	RAD21	chr11:5225913-5226520	HCT-116	colon:	n/a	chr11:5226194-5226213
48	RAD21	chr11:5225908-5226511	HCT-116	colon:	n/a	chr11:5226194-5226213
49	RAD21	chr11:5226026-5226402	HepG2	liver:	n/a	chr11:5226194-5226213
50	RAD21	chr11:5225953-5226451	SK-N-SH	brain:	n/a	chr11:5226194-5226213

No.	Distal block	Cell Line	Cell type
1	chr11:5224853..5227509-chr11:5231125..5233882,2	K562	blood:
2	chr11:5224202..5227710-chr11:5524990..5527435,3	K562	blood:
3	chr11:5229274..5231190-chr11:5233196..5235582,2	K562	blood:
4	chr11:5227943..5230443-chr11:5260953..5263248,2	K562	blood:
5	chr11:5218102..5224405-chr11:5224720..5231093,9	K562	blood:
6	chr11:5225340..5227662-chr11:5228751..5230686,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR51B6-1	chr11:5228064-5228538	XLOC_009040

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

Extended variants
information (count: 214 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181985921	chr11:5226403-5226404	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs12788935	chr11:5226469-5226470	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12788941	chr11:5226471-5226472	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575503234	chr11:5226489-5226490	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs11036245	chr11:5226530-5226531	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs187388300	chr11:5226534-5226535	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs35624669	chr11:5226578-5226579	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs72271448	chr11:5226580-5226581	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs398114987	chr11:5226582-5226583	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs200926189	chr11:5226583-5226584	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs10598663	chr11:5226585-5226586	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs545221505	chr11:5226587-5226588	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs35712849	chr11:5226588-5226589	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs71050479	chr11:5226590-5226591	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs190467175	chr11:5226655-5226656	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs550695569	chr11:5226726-5226727	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs140031338	chr11:5226745-5226746	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs181724076	chr11:5226777-5226778	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs12807743	chr11:5226865-5226866	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531002609	chr11:5226890-5226891	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs546387702	chr11:5226939-5226940	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112307299	chr11:5226957-5226958	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185683118	chr11:5226965-5226966	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs12806612	chr11:5227041-5227042	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546644795	chr11:5227056-5227057	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs35707060	chr11:5227090-5227091	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs34149786	chr11:5227093-5227094	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568441873	chr11:5227094-5227095	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs12787645	chr11:5227107-5227108	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190390230	chr11:5227116-5227117	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs551084922	chr11:5227147-5227148	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529732720	chr11:5227163-5227164	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375723482	chr11:5227182-5227183	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs12789987	chr11:5227214-5227215	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs151148651	chr11:5227270-5227271	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs539591991	chr11:5227309-5227310	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs72869869	chr11:5227357-5227358	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566614395	chr11:5227364-5227365	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs534077132	chr11:5227383-5227384	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs555404744	chr11:5227417-5227418	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538473812	chr11:5227422-5227423	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs556859875	chr11:5227426-5227427	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs570756281	chr11:5227430-5227431	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs35207925	chr11:5227470-5227471	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7929554	chr11:5227471-5227472	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546053830	chr11:5227499-5227500	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs564719017	chr11:5227513-5227514	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs73400642	chr11:5227558-5227559	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183339171	chr11:5227594-5227595	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs146340548	chr11:5227610-5227611	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 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
5	chr11:5226400-5227600	Weak transcription	K562	blood
6	chr11:5227600-5228400	Enhancers	K562	blood
7	chr11:5228400-5231600	Weak transcription	K562	blood
8	chr11:5229600-5231600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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