Variant report

Variant	nsv553170
Chromosome Location	chr11:4559739-4562348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:4560933-4561036	K562	blood:	n/a	n/a
2	CTCF	chr11:4560935-4561150	GM13976	blood:	n/a	n/a
3	CTCF	chr11:4560924-4561157	Fibrobl	skin:	n/a	n/a
4	CTCF	chr11:4560960-4561110	HEK293	kidney:	n/a	n/a
5	CTCF	chr11:4560905-4561155	HepG2	liver:	n/a	n/a
6	CTCF	chr11:4560898-4561152	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:4560947-4561151	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:4560938-4561150	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:4560920-4561162	Medullo	brain:	n/a	n/a
10	CTCF	chr11:4560960-4561110	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:4560916-4561187	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:4561820-4561970	AG10803	skin:	n/a	n/a
13	CTCF	chr11:4561000-4561150	WI-38	lung:	n/a	n/a
14	CTCF	chr11:4561240-4561390	AG10803	skin:	n/a	n/a
15	CTCF	chr11:4560932-4561139	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:4560920-4561070	K562	blood:	n/a	n/a
17	CTCF	chr11:4560893-4561186	K562	blood:	n/a	n/a
18	CTCF	chr11:4561000-4561150	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr11:4561660-4561810	SAEC	small airway:	n/a	n/a
20	CTCF	chr11:4560520-4560670	SAEC	small airway:	n/a	n/a
21	CTCF	chr11:4560863-4561233	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr11:4561060-4561210	HAc	cerebellar:	n/a	n/a
23	CTCF	chr11:4560657-4561334	HCT-116	colon:	n/a	n/a
24	CTCF	chr11:4561000-4561150	NHEK	skin:	n/a	n/a
25	CTCF	chr11:4560980-4561130	GM06990	blood:	n/a	n/a
26	CTCF	chr11:4560926-4561136	GM12891	blood:	n/a	n/a
27	CTCF	chr11:4560936-4561126	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:4560921-4561219	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr11:4560980-4561130	BJ	skin:	n/a	n/a
30	CTCF	chr11:4560940-4561090	AG09309	skin:	n/a	n/a
31	CTCF	chr11:4560837-4561251	GM12878	blood:	n/a	n/a
32	CTCF	chr11:4560943-4561129	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:4560960-4561110	AG10803	skin:	n/a	n/a
34	CTCF	chr11:4560920-4561070	GM12872	blood:	n/a	n/a
35	CTCF	chr11:4560960-4561110	GM12867	blood:	n/a	n/a
36	CTCF	chr11:4560924-4561166	ProgFib	skin:	n/a	n/a
37	CTCF	chr11:4560699-4561370	A549	lung:	n/a	n/a
38	CTCF	chr11:4560880-4561030	HAc	cerebellar:	n/a	n/a
39	CTCF	chr11:4560980-4561130	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr11:4560960-4561110	GM12875	blood:	n/a	n/a
41	CTCF	chr11:4560960-4561110	HRE	kidney:	n/a	n/a
42	CTCF	chr11:4560914-4561187	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr11:4561312-4561384	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr11:4560920-4561070	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr11:4560928-4561166	Lung_OC	lung:	n/a	n/a
46	CTCF	chr11:4560980-4561130	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr11:4560928-4561166	GM10266	blood:	n/a	n/a
48	CTCF	chr11:4560752-4561438	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr11:4560922-4561165	NHEK	skin:	n/a	n/a
50	CTCF	chr11:4560980-4561130	GM12870	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:4208014..4209388-chr11:4560615..4561905,12	MCF-7	breast:
2	chr11:4208297..4209495-chr11:4560565..4561805,6	K562	blood:
3	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:
4	chr11:4208191..4209065-chr11:4560550..4561852,3	MCF-7	breast:
5	chr11:4202964..4204119-chr11:4560777..4561880,3	MCF-7	breast:

No data

Variant related genes	Relation type
OR52M1	TF binding region
ENSG00000254480	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562459597	chr11:4560550-4560551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147555537	chr11:4560559-4560560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371012623	chr11:4560560-4560561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76781350	chr11:4560587-4560588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369601346	chr11:4560604-4560605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2657180	chr11:4560647-4560648	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567484719	chr11:4560649-4560650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564459275	chr11:4560666-4560667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188592682	chr11:4560677-4560678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551058971	chr11:4560678-4560679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181595368	chr11:4560682-4560683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142094754	chr11:4560696-4560697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533379199	chr11:4560697-4560698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575920104	chr11:4560706-4560707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78119734	chr11:4560719-4560720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2709173	chr11:4560741-4560742	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528181319	chr11:4560761-4560762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151099912	chr11:4560795-4560796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs16910179	chr11:4560812-4560813	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368107714	chr11:4560835-4560836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185789010	chr11:4560837-4560838	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574465077	chr11:4560840-4560841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556302179	chr11:4560853-4560854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12271258	chr11:4560854-4560855	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532010863	chr11:4560860-4560861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2657179	chr11:4560884-4560885	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141041102	chr11:4560891-4560892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112747977	chr11:4560894-4560895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs16913912	chr11:4560906-4560907	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2657178	chr11:4560907-4560908	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570884056	chr11:4560946-4560947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374371306	chr11:4560952-4560953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531767711	chr11:4560999-4561000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533548493	chr11:4561003-4561004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550628556	chr11:4561005-4561006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10836245	chr11:4561039-4561040	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533280458	chr11:4561057-4561058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573394781	chr11:4561086-4561087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542922589	chr11:4561104-4561105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7105654	chr11:4561123-4561124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10836246	chr11:4561140-4561141	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181983008	chr11:4561167-4561168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11032710	chr11:4561175-4561176	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs118149958	chr11:4561178-4561179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556265224	chr11:4561182-4561183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577788395	chr11:4561224-4561225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10836247	chr11:4561225-4561226	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543728816	chr11:4561296-4561297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76457218	chr11:4561299-4561300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10836248	chr11:4561309-4561310	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Autism	22495311	CNVD
Lung cancer	18438408	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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