Variant report

Variant	nsv515929
Chromosome Location	chr11:5841068-5841856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5841202-5841334	K562	blood:	n/a	n/a
2	MYC	chr11:5841673-5841773	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:5841157-5841283	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5841688-5841738	MCF-7	breast:	n/a
2	chr11:5841688-5841738	AG04450	lung:	fetal
3	chr11:5841688-5841738	GM12878	blood:	n/a
4	chr11:5841688-5841738	HRCEpiC	kidney:	n/a
5	chr11:5841482-5841532	HEK293	kidney:	embryo
6	chr11:5841482-5841532	HMEC	breast:	n/a
7	chr11:5841482-5841532	NB4	blood:	n/a
8	chr11:5841688-5841738	A549	lung:	n/a
9	chr11:5841482-5841532	ProgFib	skin:	n/a
10	chr11:5841482-5841532	HAEpiC	amniotic membrane:	n/a
11	chr11:5841688-5841738	AG10803	skin:	n/a
12	chr11:5841482-5841532	U87	brain:	n/a
13	chr11:5841482-5841532	Hepatocyte	liver:	n/a
14	chr11:5841482-5841532	Hela-S3	cervix:	n/a
15	chr11:5841482-5841532	HNPCEpiC	eye:	n/a
16	chr11:5841482-5841532	NHBE	bronchial:	n/a
17	chr11:5841688-5841738	HCT-116	colon:	n/a
18	chr11:5841482-5841532	PFSK-1	brain:	n/a
19	chr11:5841482-5841532	HRCEpiC	kidney:	n/a
20	chr11:5841688-5841738	NT2-D1	testis:	n/a
21	chr11:5841482-5841532	ovcar-3	ovarian:	n/a
22	chr11:5841482-5841532	GM12891	blood:	n/a
23	chr11:5841688-5841738	ProgFib	skin:	n/a
24	chr11:5841688-5841738	AG09309	skin:	n/a
25	chr11:5841482-5841532	T-47D	breast:	n/a
26	chr11:5841688-5841738	HIPEpiC	eye:	n/a
27	chr11:5841482-5841532	SK-N-SH_RA	brain:	n/a
28	chr11:5841688-5841738	BE2_C	brain:	n/a
29	chr11:5841482-5841532	HCT-116	colon:	n/a
30	chr11:5841688-5841738	NHDF-neo	bronchial:	n/a
31	chr11:5841482-5841532	RPTEC	kidney:	n/a
32	chr11:5841482-5841532	AG04450	lung:	fetal
33	chr11:5841482-5841532	A549	lung:	n/a
34	chr11:5841482-5841532	NH-A	brain:	n/a
35	chr11:5841482-5841532	AG10803	skin:	n/a
36	chr11:5841482-5841532	BJ	skin:	n/a
37	chr11:5841688-5841738	GM12892	blood:	n/a
38	chr11:5841482-5841532	IMR90	lung:	fetal
39	chr11:5841482-5841532	HUVEC	blood vessel:	n/a
40	chr11:5841482-5841532	HCF	heart:	n/a
41	chr11:5841482-5841532	SKMC	muscle:	n/a
42	chr11:5841688-5841738	Hela-S3	cervix:	n/a
43	chr11:5841688-5841738	NH-A	brain:	n/a
44	chr11:5841482-5841532	Caco-2	colon:	n/a
45	chr11:5841688-5841738	Caco-2	colon:	n/a
46	chr11:5841688-5841738	AG09319	gingival:	n/a
47	chr11:5841688-5841738	H1-hESC	embryonic stem cell:	embryo
48	chr11:5841482-5841532	LNCaP	prostate:	n/a
49	chr11:5841688-5841738	GM06990	blood:	n/a
50	chr11:5841482-5841532	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
OR52N2	TF binding region
OR52N2	CpG island

Extended variants
information (count: 53 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386750220	chr11:5841068-5841069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78191630	chr11:5841070-5841071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12576581	chr11:5841105-5841106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538750355	chr11:5841128-5841129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541902441	chr11:5841142-5841143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554286597	chr11:5841161-5841162	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74633617	chr11:5841180-5841181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560813251	chr11:5841208-5841209	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs58194033	chr11:5841245-5841246	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543164492	chr11:5841262-5841263	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190387123	chr11:5841275-5841276	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532375800	chr11:5841280-5841281	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540747912	chr11:5841288-5841289	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs559434331	chr11:5841289-5841290	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529625709	chr11:5841326-5841327	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537410166	chr11:5841345-5841346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540837442	chr11:5841351-5841352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146614190	chr11:5841394-5841395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57482916	chr11:5841404-5841405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs564405358	chr11:5841406-5841407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181392427	chr11:5841428-5841429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550537807	chr11:5841433-5841434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571746767	chr11:5841466-5841467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148735125	chr11:5841483-5841484	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs553956209	chr11:5841507-5841508	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs372062540	chr11:5841517-5841518	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs559931754	chr11:5841518-5841519	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs375579206	chr11:5841536-5841537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200385411	chr11:5841549-5841550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372641030	chr11:5841551-5841552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148886515	chr11:5841573-5841574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368106106	chr11:5841609-5841610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114368101	chr11:5841616-5841617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372029486	chr11:5841619-5841620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558453333	chr11:5841620-5841621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80020914	chr11:5841633-5841634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141976886	chr11:5841650-5841651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576946662	chr11:5841670-5841671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185921515	chr11:5841676-5841677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112125234	chr11:5841688-5841689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376706339	chr11:5841689-5841690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73394370	chr11:5841701-5841702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371684747	chr11:5841739-5841740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73394373	chr11:5841743-5841744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541807315	chr11:5841749-5841750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369345504	chr11:5841753-5841754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149599871	chr11:5841762-5841763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73394374	chr11:5841778-5841779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148665650	chr11:5841806-5841807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372828283	chr11:5841816-5841817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5837600-5841200	Weak transcription	K562	blood
2	chr11:5837600-5844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:5840400-5841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:5840400-5841600	Weak transcription	Spleen	Spleen
5	chr11:5841200-5842000	Enhancers	K562	blood
6	chr11:5841600-5842400	Enhancers	Spleen	Spleen

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