Variant report

Variant	nsv897014
Chromosome Location	chr11:16211343-16283644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:472)
CpG islands
(count:0)
Chromatin interactive
region (count:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:16274129-16274292	K562	blood:	n/a	n/a
2	ARID3A	chr11:16213058-16213194	K562	blood:	n/a	n/a
3	ARID3A	chr11:16215594-16215968	K562	blood:	n/a	n/a
4	ARID3A	chr11:16247839-16248178	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:16261422-16261856	K562	blood:	n/a	n/a
6	ARID3A	chr11:16274051-16274250	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:16225893-16226444	HepG2	liver:	n/a	n/a
8	ATF1	chr11:16220369-16220662	K562	blood:	n/a	n/a
9	ATF1	chr11:16235644-16235823	K562	blood:	n/a	n/a
10	ATF1	chr11:16215396-16215970	K562	blood:	n/a	n/a
11	BACH1	chr11:16261791-16261801	K562	blood:	n/a	n/a
12	BACH1	chr11:16273238-16273356	K562	blood:	n/a	n/a
13	BHLHE40	chr11:16215449-16216034	K562	blood:	n/a	n/a
14	BHLHE40	chr11:16213195-16213262	K562	blood:	n/a	n/a
15	BHLHE40	chr11:16220419-16220582	K562	blood:	n/a	n/a
16	BHLHE40	chr11:16261173-16261323	K562	blood:	n/a	n/a
17	BHLHE40	chr11:16262212-16262324	K562	blood:	n/a	n/a
18	BHLHE40	chr11:16248034-16248148	K562	blood:	n/a	n/a
19	CBX3	chr11:16224012-16224364	K562	blood:	n/a	n/a
20	CBX3	chr11:16269564-16270388	K562	blood:	n/a	n/a
21	CCNT2	chr11:16212965-16213273	K562	blood:	n/a	n/a
22	CCNT2	chr11:16215570-16215985	K562	blood:	n/a	n/a
23	CEBPB	chr11:16243293-16243394	A549	lung:	n/a	n/a
24	CEBPB	chr11:16215587-16215962	K562	blood:	n/a	n/a
25	CEBPB	chr11:16236628-16236796	A549	lung:	n/a	chr11:16236707-16236718
26	CEBPB	chr11:16212815-16213144	K562	blood:	n/a	chr11:16212957-16212968
27	CEBPB	chr11:16215546-16215947	K562	blood:	n/a	n/a
28	CEBPB	chr11:16235689-16235763	HepG2	liver:	n/a	chr11:16235739-16235750
29	CEBPB	chr11:16236581-16236894	IMR90	lung:	n/a	chr11:16236707-16236718
30	CEBPB	chr11:16212861-16213052	H1-hESC	embryonic stem cell:	n/a	chr11:16212957-16212968
31	CEBPB	chr11:16236561-16236882	HepG2	liver:	n/a	chr11:16236707-16236718
32	CEBPB	chr11:16255090-16255143	IMR90	lung:	n/a	n/a
33	CEBPB	chr11:16212816-16213029	HepG2	liver:	n/a	chr11:16212957-16212968
34	CEBPB	chr11:16212797-16213130	K562	blood:	n/a	chr11:16212957-16212968
35	CEBPB	chr11:16212810-16213094	IMR90	lung:	n/a	chr11:16212957-16212968
36	CEBPB	chr11:16235572-16235891	K562	blood:	n/a	chr11:16235739-16235750
37	CEBPB	chr11:16236683-16236798	H1-hESC	embryonic stem cell:	n/a	chr11:16236707-16236718
38	CEBPD	chr11:16215368-16216104	K562	blood:	n/a	n/a
39	CEBPD	chr11:16215403-16216138	K562	blood:	n/a	n/a
40	CEBPZ	chr11:16247850-16247882	HepG2	liver:	n/a	n/a
41	CTCF	chr11:16213000-16213150	GM12872	blood:	n/a	chr11:16213102-16213123 chr11:16213100-16213118
42	CTCF	chr11:16274180-16274330	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr11:16212503-16212559	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr11:16274100-16274250	HCT-116	colon:	n/a	n/a
45	CTCF	chr11:16274000-16274150	GM12872	blood:	n/a	n/a
46	CTCF	chr11:16213000-16213150	GM12869	blood:	n/a	chr11:16213102-16213123 chr11:16213100-16213118
47	CTCF	chr11:16274100-16274250	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr11:16274039-16274208	HepG2	liver:	n/a	n/a
49	CTCF	chr11:16274100-16274250	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr11:16274080-16274230	K562	blood:	n/a	n/a

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:16263238..16264748-chr11:16273911..16275537,2	K562	blood:
2	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:
3	chr11:16258646..16260759-chr11:16262336..16265198,2	K562	blood:
4	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
5	chr11:16265955..16267897-chr11:16366139..16368672,2	K562	blood:
6	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
7	chr11:16212554..16213580-chr11:16627486..16628319,3	MCF-7	breast:
8	chr11:16265440..16267766-chr11:16271349..16273913,2	K562	blood:
9	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
10	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
11	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
12	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
13	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
14	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
15	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
16	chr11:16258646..16260759-chr11:16262336..16265198,2	K562	blood:
17	chr11:16209269..16212267-chr11:16243598..16245269,2	K562	blood:
18	chr11:16215659..16217331-chr11:16627513..16629554,2	K562	blood:
19	chr11:16212664..16213531-chr11:16634934..16635871,3	K562	blood:
20	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
21	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
22	chr11:16251614..16253946-chr11:16259376..16260960,2	K562	blood:
23	chr11:16253958..16256004-chr11:16256326..16259109,2	K562	blood:
24	chr11:16248287..16249803-chr11:16256816..16258558,2	K562	blood:
25	chr11:16252253..16255458-chr11:16256326..16259202,3	K562	blood:
26	chr11:16265440..16267766-chr11:16271349..16273913,2	K562	blood:
27	chr11:16256169..16258785-chr11:16346996..16349123,2	K562	blood:
28	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:
29	chr11:16245998..16247921-chr11:16262395..16264566,2	K562	blood:
30	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
31	chr11:16254286..16256657-chr11:16264384..16267054,2	K562	blood:
32	chr11:16253830..16255900-chr11:16301377..16303054,2	K562	blood:
33	chr11:16262539..16264266-chr11:16264896..16266667,2	K562	blood:
34	chr11:16212721..16213531-chr11:16627544..16628402,2	K562	blood:
35	chr11:16273658..16274622-chr11:16627404..16628365,5	MCF-7	breast:
36	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:
37	chr11:16213881..16214546-chr11:16634890..16635879,2	K562	blood:
38	chr11:16198617..16200800-chr11:16214986..16217270,2	K562	blood:
39	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
40	chr11:16215831..16218271-chr11:16626703..16629554,2	K562	blood:
41	chr11:16277289..16281774-chr11:16284462..16288431,5	K562	blood:
42	chr11:16240077..16244324-chr11:16251034..16255034,5	K562	blood:
43	chr11:16262539..16264266-chr11:16264896..16266667,2	K562	blood:
44	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
45	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
46	chr11:16272523..16274102-chr11:16278731..16281096,3	K562	blood:
47	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:
48	chr11:16253250..16255469-chr11:16319154..16321553,2	K562	blood:
49	chr11:16273763..16275411-chr11:16283126..16284650,2	K562	blood:
50	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHA7-5	chr11:16221974-16222435	NONHSAT018173

No data

Variant related genes	Relation type
SOX6	TF binding region
ENSG00000110693	chromatin interactions

Extended variants
information (count: 2341 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2341 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9971408	chr11:16211343-16211344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150612981	chr11:16211355-16211356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529947855	chr11:16211360-16211361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548176905	chr11:16211364-16211365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560442975	chr11:16211422-16211423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375161839	chr11:16211424-16211425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527638033	chr11:16211490-16211491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12798896	chr11:16211535-16211536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568025886	chr11:16211615-16211616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535139420	chr11:16211684-16211685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547434755	chr11:16211738-16211739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565641821	chr11:16211762-16211763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564545980	chr11:16211770-16211771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539604040	chr11:16211786-16211787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570576557	chr11:16211832-16211833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115522596	chr11:16211869-16211870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576352821	chr11:16211972-16211973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537969671	chr11:16211987-16211988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537322191	chr11:16212010-16212011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563483436	chr11:16212036-16212037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555411214	chr11:16212162-16212163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549890383	chr11:16212233-16212234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568308038	chr11:16212293-16212294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146073805	chr11:16212311-16212312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192701507	chr11:16212312-16212313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372051808	chr11:16212324-16212325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374495349	chr11:16212335-16212336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541877231	chr11:16212355-16212356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554188637	chr11:16212389-16212390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572455070	chr11:16212390-16212391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536094932	chr11:16212395-16212396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140179189	chr11:16212398-16212399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564336052	chr11:16212539-16212540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370607446	chr11:16212696-16212697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572708700	chr11:16212701-16212702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531814114	chr11:16212710-16212711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543693019	chr11:16212713-16212714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117773492	chr11:16212734-16212735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528834360	chr11:16212753-16212754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142473144	chr11:16212767-16212768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533523290	chr11:16212781-16212782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533058734	chr11:16212782-16212783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368672934	chr11:16212785-16212786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs117775737	chr11:16212810-16212811	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569852329	chr11:16212827-16212828	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537260952	chr11:16212899-16212900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555611541	chr11:16212918-16212919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567448235	chr11:16212936-16212937	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113439639	chr11:16212963-16212964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185652958	chr11:16213034-16213035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16206600-16212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16206800-16212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:16206800-16213000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:16206800-16215800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:16207000-16211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:16207200-16213000	Weak transcription	NHLF	lung
7	chr11:16207200-16215400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:16207200-16221200	Weak transcription	Fetal Intestine Large	intestine
9	chr11:16207800-16213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:16208000-16212800	Weak transcription	Fetal Heart	heart
11	chr11:16208000-16216400	Weak transcription	A549	lung
12	chr11:16208600-16213000	Weak transcription	Psoas Muscle	Psoas
13	chr11:16208600-16213000	Weak transcription	HepG2	liver
14	chr11:16208800-16212200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:16208800-16213000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:16208800-16214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:16210600-16216200	Weak transcription	Right Atrium	heart
18	chr11:16211800-16213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:16212000-16217800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:16212200-16212800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:16212200-16213400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:16212200-16214400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:16212800-16213000	Enhancers	Left Ventricle	heart
24	chr11:16212800-16213200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:16212800-16213400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:16212800-16213600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:16212800-16213800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:16212800-16213800	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:16212800-16213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:16212800-16213800	Enhancers	Fetal Heart	heart
31	chr11:16213000-16213200	Enhancers	Fetal Stomach	stomach
32	chr11:16213000-16213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:16213000-16213600	Enhancers	HepG2	liver
34	chr11:16213000-16213600	Enhancers	NHLF	lung
35	chr11:16213000-16213800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:16213000-16213800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:16213000-16213800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:16213000-16213800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:16213000-16213800	Enhancers	Fetal Thymus	thymus
40	chr11:16213000-16213800	Enhancers	Psoas Muscle	Psoas
41	chr11:16213000-16213800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:16213000-16214800	Weak transcription	Left Ventricle	heart
43	chr11:16213200-16213400	Enhancers	Pancreas	Pancrea
44	chr11:16213200-16213600	Enhancers	K562	blood
45	chr11:16213200-16213800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:16213200-16213800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:16213200-16213800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:16213200-16213800	Enhancers	Brain Germinal Matrix	brain
49	chr11:16213200-16217200	Weak transcription	Fetal Stomach	stomach
50	chr11:16213400-16213800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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