Variant report

Variant	nsv555077
Chromosome Location	chr11:55643281-55674324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:488)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55667871-55668044	A549	lung:	n/a	n/a
2	CTCF	chr11:55662918-55662932	K562	blood:	n/a	n/a
3	CTCF	chr11:55662800-55662950	GM12873	blood:	n/a	n/a
4	CTCF	chr11:55662780-55662930	HEK293	kidney:	n/a	n/a
5	CTCF	chr11:55662816-55663062	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:55662740-55662890	A549	lung:	n/a	n/a
7	CTCF	chr11:55662840-55662990	GM12866	blood:	n/a	n/a
8	CTCF	chr11:55653673-55653698	GM10248	blood:	n/a	n/a
9	CTCF	chr11:55662787-55662980	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr11:55655615-55655655	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:55662860-55663010	GM12875	blood:	n/a	n/a
12	CTCF	chr11:55662840-55662990	HepG2	liver:	n/a	n/a
13	CTCF	chr11:55662750-55663026	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:55662820-55662970	BE2_C	brain:	n/a	n/a
15	CTCF	chr11:55662800-55662950	NB4	blood:	n/a	n/a
16	CTCF	chr11:55662762-55662979	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr11:55660557-55660590	GM20000	blood:	n/a	n/a
18	CTCF	chr11:55662859-55662963	HepG2	liver:	n/a	n/a
19	CTCF	chr11:55662880-55663030	GM12867	blood:	n/a	n/a
20	CTCF	chr11:55662760-55662910	GM06990	blood:	n/a	n/a
21	CTCF	chr11:55662860-55663010	GM12872	blood:	n/a	n/a
22	CTCF	chr11:55662860-55663010	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr11:55662840-55662990	HEK293	kidney:	n/a	n/a
24	CTCF	chr11:55662820-55662970	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr11:55662860-55663010	HepG2	liver:	n/a	n/a
26	CTCF	chr11:55662740-55662890	GM06990	blood:	n/a	n/a
27	CTCF	chr11:55662860-55663010	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr11:55658475-55658514	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr11:55663080-55663230	GM06990	blood:	n/a	n/a
30	CTCF	chr11:55662840-55662990	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr11:55662845-55663047	GM12878	blood:	n/a	n/a
32	CTCF	chr11:55662880-55663030	GM12872	blood:	n/a	n/a
33	CTCF	chr11:55662760-55662910	GM12865	blood:	n/a	n/a
34	CTCF	chr11:55662860-55663010	GM12874	blood:	n/a	n/a
35	E2F4	chr11:55670354-55670565	MCF10A-Er-Src	breast:	n/a	n/a
36	GABPA	chr11:55658814-55659034	Hela-S3	cervix:	n/a	n/a
37	JUND	chr11:55669856-55670105	HepG2	liver:	n/a	chr11:55669982-55669991
38	MAFF	chr11:55674198-55674253	HepG2	liver:	n/a	n/a
39	MAFK	chr11:55674141-55674336	HepG2	liver:	n/a	n/a
40	MAFK	chr11:55663885-55663900	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr11:55662885-55662955	NB4	blood:	n/a	n/a
42	NFYA	chr11:55670214-55670410	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:55669518-55669659	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:55669753-55669859	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr11:55662679-55663063	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:55662766-55663036	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr11:55662764-55662967	SK-N-SH_RA	brain:	n/a	n/a
48	RAD21	chr11:55662741-55663067	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chr11:55671355-55671395	HepG2	liver:	n/a	n/a
50	WRNIP1	chr11:55671004-55671138	GM12878	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55653268-55653318	SK-N-SH_RA	brain:	n/a
2	chr11:55649706-55649756	HIPEpiC	eye:	n/a
3	chr11:55650046-55650096	RPTEC	kidney:	n/a
4	chr11:55653268-55653318	HepG2	liver:	n/a
5	chr11:55653080-55653130	RPTEC	kidney:	n/a
6	chr11:55652114-55652164	HCF	heart:	n/a
7	chr11:55644825-55644875	CMK	blood:	n/a
8	chr11:55653310-55653360	MCF-7	breast:	n/a
9	chr11:55650046-55650096	SAEC	small airway:	n/a
10	chr11:55650046-55650096	GM12878	blood:	n/a
11	chr11:55653080-55653130	A549	lung:	n/a
12	chr11:55653310-55653360	Hepatocyte	liver:	n/a
13	chr11:55650046-55650096	PANC-1	pancreas:	n/a
14	chr11:55650046-55650096	AG04450	lung:	fetal
15	chr11:55659176-55659226	ECC-1	luminal epithelium:	n/a
16	chr11:55653310-55653360	NHDF-neo	bronchial:	n/a
17	chr11:55653080-55653130	HL-60	blood:	n/a
18	chr11:55653268-55653318	HL-60	blood:	n/a
19	chr11:55652114-55652164	T-47D	breast:	n/a
20	chr11:55649706-55649756	SK-N-SH_RA	brain:	n/a
21	chr11:55653080-55653130	AG09319	gingival:	n/a
22	chr11:55644825-55644875	HEEpiC	esophagus:	n/a
23	chr11:55653080-55653130	HCM	heart:	n/a
24	chr11:55653080-55653130	HepG2	liver:	n/a
25	chr11:55644825-55644875	MCF-7	breast:	n/a
26	chr11:55659176-55659226	AG04449	skin:	fetal
27	chr11:55653310-55653360	T-47D	breast:	n/a
28	chr11:55649706-55649756	GM19239	blood:	n/a
29	chr11:55652114-55652164	GM06990	blood:	n/a
30	chr11:55649706-55649756	AG09309	skin:	n/a
31	chr11:55650046-55650096	HEEpiC	esophagus:	n/a
32	chr11:55653310-55653360	IMR90	lung:	fetal
33	chr11:55653080-55653130	SK-N-MC	brain:	n/a
34	chr11:55653080-55653130	Jurkat	blood:	n/a
35	chr11:55644825-55644875	SK-N-MC	brain:	n/a
36	chr11:55650046-55650096	ProgFib	skin:	n/a
37	chr11:55653310-55653360	AG09309	skin:	n/a
38	chr11:55659176-55659226	LNCaP	prostate:	n/a
39	chr11:55653310-55653360	AG04450	lung:	fetal
40	chr11:55650046-55650096	HCT-116	colon:	n/a
41	chr11:55644825-55644875	GM06990	blood:	n/a
42	chr11:55653080-55653130	AG10803	skin:	n/a
43	chr11:55652114-55652164	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:55653080-55653130	MCF10A-Er-Src	breast:	n/a
45	chr11:55653080-55653130	HUVEC	blood vessel:	n/a
46	chr11:55644825-55644875	T-47D	breast:	n/a
47	chr11:55652114-55652164	NHDF-neo	bronchial:	n/a
48	chr11:55650046-55650096	IMR90	lung:	fetal
49	chr11:55659176-55659226	PrEC	prostate:	n/a
50	chr11:55652114-55652164	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD5-1	chr11:55648224-55648719	NONHSAT021372

No data

Variant related genes	Relation type
ENSG00000254547	TF binding region
TRIM51	TF binding region
OR5W1P	TF binding region
ENSG00000254547	CpG island
TRIM51	CpG island
OR5W1P	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181368922	chr11:55644825-55644826	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs557303034	chr11:55644827-55644828	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs139554922	chr11:55648227-55648228	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543077335	chr11:55648243-55648244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561877678	chr11:55648246-55648247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529056162	chr11:55648268-55648269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544519906	chr11:55648294-55648295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs562817216	chr11:55648297-55648298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574386758	chr11:55648306-55648307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs199969606	chr11:55648307-55648308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs201066948	chr11:55648310-55648311	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs202126266	chr11:55648315-55648316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs551124500	chr11:55648316-55648317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374382375	chr11:55648317-55648318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs527416518	chr11:55648353-55648354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548634538	chr11:55648368-55648369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs567530652	chr11:55648375-55648376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs115507630	chr11:55648377-55648378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs531362244	chr11:55648404-55648405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs367919068	chr11:55648446-55648447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs571889299	chr11:55648451-55648452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372100557	chr11:55648523-55648524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191172833	chr11:55648525-55648526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs553909267	chr11:55648571-55648572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113365349	chr11:55648588-55648589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543151348	chr11:55648614-55648615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555052518	chr11:55648617-55648618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs576606295	chr11:55648630-55648631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544458607	chr11:55648655-55648656	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs562656823	chr11:55648668-55648669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs183673634	chr11:55648705-55648706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs4939538	chr11:55649712-55649713	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369113793	chr11:55649734-55649735	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs542495857	chr11:55649741-55649742	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs4341561	chr11:55650047-55650048	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs186220668	chr11:55652114-55652115	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs188578769	chr11:55652115-55652116	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs118080224	chr11:55652126-55652127	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs367940835	chr11:55653083-55653084	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs573493867	chr11:55653094-55653095	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs540493221	chr11:55653105-55653106	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs200343592	chr11:55653128-55653129	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs374956832	chr11:55653276-55653277	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs568064356	chr11:55653290-55653291	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs535396321	chr11:55653294-55653295	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs187475456	chr11:55653316-55653317	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs557674935	chr11:55663023-55663024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140315040	chr11:55663038-55663039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145537353	chr11:55663052-55663053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189611452	chr11:55663057-55663058	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55663000-55663400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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