Variant report

Variant	nsv976462
Chromosome Location	chr11:85227017-85253774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:85233281-85233544	K562	blood:	n/a	n/a
2	CTCF	chr11:85251765-85251961	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:85229911-85229941	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:85251760-85251910	K562	blood:	n/a	n/a
5	CTCF	chr11:85251760-85251910	NHLF	lung:	n/a	n/a
6	CTCF	chr11:85249227-85249274	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:85251760-85251910	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:85251720-85251870	GM06990	blood:	n/a	n/a
9	CTCF	chr11:85251780-85251930	GM12872	blood:	n/a	n/a
10	CTCF	chr11:85251720-85251870	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr11:85251882-85251894	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:85251720-85251870	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:85251840-85251990	HMF	breast:	n/a	n/a
14	CTCF	chr11:85251740-85251890	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:85251800-85251950	HAc	cerebellar:	n/a	n/a
16	CTCF	chr11:85251773-85251971	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:85251771-85251966	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:85251760-85251910	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr11:85251825-85251858	GM12891	blood:	n/a	n/a
20	CTCF	chr11:85251760-85251910	HEK293	kidney:	n/a	n/a
21	CTCF	chr11:85251820-85251970	HMF	breast:	n/a	n/a
22	CTCF	chr11:85251920-85252070	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr11:85251800-85251950	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr11:85251800-85251950	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr11:85229951-85229956	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:85251860-85252010	A549	lung:	n/a	n/a
27	CTCF	chr11:85251740-85251890	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr11:85251938-85252022	GM12878	blood:	n/a	n/a
29	CTCF	chr11:85251780-85251930	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr11:85251800-85251950	HFF	foreskin:	n/a	n/a
31	CTCF	chr11:85251575-85251981	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:85251720-85251870	NB4	blood:	n/a	n/a
33	CTCF	chr11:85251740-85251890	GM12878	blood:	n/a	n/a
34	CTCF	chr11:85251820-85251970	GM12874	blood:	n/a	n/a
35	CTCF	chr11:85251760-85251910	NHEK	skin:	n/a	n/a
36	CTCF	chr11:85251743-85251976	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:85251840-85251990	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:85251840-85251990	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:85251800-85251950	Caco-2	colon:	n/a	n/a
40	CTCF	chr11:85251808-85251888	ProgFib	skin:	n/a	n/a
41	CTCF	chr11:85251800-85251950	HCT-116	colon:	n/a	n/a
42	CTCF	chr11:85251680-85251830	GM12866	blood:	n/a	n/a
43	CTCF	chr11:85251800-85251950	GM12873	blood:	n/a	n/a
44	CTCF	chr11:85251815-85251908	Gliobla	brain:	n/a	n/a
45	CTCF	chr11:85251805-85251836	GM20000	blood:	n/a	n/a
46	CTCF	chr11:85251760-85251910	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr11:85251761-85251982	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:85251780-85251930	HepG2	liver:	n/a	n/a
49	CTCF	chr11:85230367-85230404	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr11:85251764-85251973	MCF-7	breast:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85242554-85242604	HAEpiC	amniotic membrane:	n/a
2	chr11:85242554-85242604	HAEpiC	amniotic membrane:	n/a
3	chr11:85236929-85236979	SK-N-SH_RA	brain:	n/a
4	chr11:85242554-85242604	AG09319	gingival:	n/a
5	chr11:85236929-85236979	CMK	blood:	n/a
6	chr11:85242554-85242604	HL-60	blood:	n/a
7	chr11:85242554-85242604	HepG2	liver:	n/a
8	chr11:85242554-85242604	NB4	blood:	n/a
9	chr11:85236929-85236979	GM19239	blood:	n/a
10	chr11:85242554-85242604	BE2_C	brain:	n/a
11	chr11:85236929-85236979	HAEpiC	amniotic membrane:	n/a
12	chr11:85236929-85236979	HEEpiC	esophagus:	n/a
13	chr11:85242554-85242604	GM12878	blood:	n/a
14	chr11:85242554-85242604	HRPEpiC	eye:	n/a
15	chr11:85236929-85236979	PANC-1	pancreas:	n/a
16	chr11:85236929-85236979	T-47D	breast:	n/a
17	chr11:85236929-85236979	PrEC	prostate:	n/a
18	chr11:85242554-85242604	SK-N-MC	brain:	n/a
19	chr11:85242554-85242604	U87	brain:	n/a
20	chr11:85236929-85236979	IMR90	lung:	fetal
21	chr11:85236929-85236979	HIPEpiC	eye:	n/a
22	chr11:85242554-85242604	HEEpiC	esophagus:	n/a
23	chr11:85236929-85236979	HRPEpiC	eye:	n/a
24	chr11:85236929-85236979	NT2-D1	testis:	n/a
25	chr11:85236929-85236979	GM06990	blood:	n/a
26	chr11:85236929-85236979	MCF10A-Er-Src	breast:	n/a
27	chr11:85236929-85236979	NB4	blood:	n/a
28	chr11:85236929-85236979	Jurkat	blood:	n/a
29	chr11:85242554-85242604	HCM	heart:	n/a
30	chr11:85242554-85242604	GM06990	blood:	n/a
31	chr11:85236929-85236979	HNPCEpiC	eye:	n/a
32	chr11:85236929-85236979	ProgFib	skin:	n/a
33	chr11:85242554-85242604	NHDF-neo	bronchial:	n/a
34	chr11:85242554-85242604	NT2-D1	testis:	n/a
35	chr11:85236929-85236979	BJ	skin:	n/a
36	chr11:85242554-85242604	PANC-1	pancreas:	n/a
37	chr11:85242554-85242604	HCT-116	colon:	n/a
38	chr11:85236929-85236979	AG04450	lung:	fetal
39	chr11:85242554-85242604	Hepatocyte	liver:	n/a
40	chr11:85236929-85236979	GM12892	blood:	n/a
41	chr11:85242554-85242604	AG04450	lung:	fetal
42	chr11:85236929-85236979	NH-A	brain:	n/a
43	chr11:85242554-85242604	ECC-1	luminal epithelium:	n/a
44	chr11:85236929-85236979	U87	brain:	n/a
45	chr11:85242554-85242604	PrEC	prostate:	n/a
46	chr11:85236929-85236979	PFSK-1	brain:	n/a
47	chr11:85236929-85236979	HMEC	breast:	n/a
48	chr11:85242554-85242604	HMEC	breast:	n/a
49	chr11:85236929-85236979	SKMC	muscle:	n/a
50	chr11:85236929-85236979	AoSMC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREBZF-1	chr11:85236035-85236066	NONHSAT023435

No data

Variant related genes	Relation type
DLG2	TF binding region
DLG2	CpG island

Extended variants
information (count: 1174 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535191317	chr11:85227024-85227025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182415575	chr11:85227059-85227060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117768401	chr11:85227105-85227106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187807523	chr11:85227130-85227131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544084529	chr11:85227180-85227181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559021536	chr11:85227182-85227183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192684539	chr11:85227191-85227192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183006643	chr11:85227197-85227198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560001807	chr11:85227244-85227245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188501417	chr11:85227259-85227260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527864385	chr11:85227266-85227267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192912391	chr11:85227303-85227304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563699873	chr11:85227329-85227330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530852517	chr11:85227350-85227351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184783032	chr11:85227393-85227394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564067858	chr11:85227406-85227407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148377290	chr11:85227421-85227422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs286510	chr11:85227439-85227440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs372018528	chr11:85227443-85227444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535531515	chr11:85227450-85227451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141392689	chr11:85227452-85227453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568820011	chr11:85227462-85227463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147033599	chr11:85227481-85227482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538874608	chr11:85227514-85227515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548295247	chr11:85227515-85227516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189654655	chr11:85227557-85227558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577577491	chr11:85227562-85227563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371274593	chr11:85227565-85227566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375145041	chr11:85227637-85227638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563704824	chr11:85227670-85227671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553559165	chr11:85227680-85227681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575135489	chr11:85227689-85227690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539308125	chr11:85227732-85227733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs286509	chr11:85227751-85227752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563669609	chr11:85227766-85227767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191227143	chr11:85227782-85227783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183734786	chr11:85227784-85227785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572664057	chr11:85227836-85227837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12794442	chr11:85227868-85227869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564155895	chr11:85227869-85227870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189321766	chr11:85227883-85227884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546535380	chr11:85227909-85227910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115597722	chr11:85227934-85227935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529110725	chr11:85227989-85227990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181741598	chr11:85228027-85228028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138324113	chr11:85228029-85228030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536622801	chr11:85228041-85228042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117541336	chr11:85228046-85228047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575771119	chr11:85228053-85228054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566476601	chr11:85228071-85228072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85195200-85238200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:85220600-85233000	Weak transcription	Pancreas	Pancrea
3	chr11:85228000-85232400	Weak transcription	Ovary	ovary
4	chr11:85229800-85230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:85230000-85231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:85230200-85230400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:85230400-85233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:85230400-85236400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:85231000-85232600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:85232600-85234400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:85232800-85235200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr11:85233200-85234000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:85233200-85234200	ZNF genes & repeats	Aorta	Aorta
14	chr11:85233200-85235200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr11:85233200-85235400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr11:85233400-85233600	ZNF genes & repeats	Right Atrium	heart
17	chr11:85233400-85235200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr11:85233400-85235200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr11:85233600-85242600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:85233800-85234200	Weak transcription	Right Atrium	heart
21	chr11:85234000-85247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:85234200-85235200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:85234200-85235600	Weak transcription	Aorta	Aorta
24	chr11:85234400-85236800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:85234800-85235000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr11:85235000-85237600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:85235200-85236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:85235200-85236200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:85235200-85236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:85235200-85236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:85235200-85236800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:85235200-85239400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:85235200-85251000	Weak transcription	Psoas Muscle	Psoas
34	chr11:85235400-85235600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:85235600-85235800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:85235600-85235800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr11:85235600-85235800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr11:85235600-85235800	ZNF genes & repeats	Aorta	Aorta
39	chr11:85235600-85235800	Enhancers	Left Ventricle	heart
40	chr11:85235600-85236000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:85235800-85236000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:85235800-85236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:85235800-85236600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:85235800-85238600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:85235800-85245800	Weak transcription	Aorta	Aorta
46	chr11:85236000-85236400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:85236200-85237400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr11:85236200-85238600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:85236400-85236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:85236400-85237200	Enhancers	HUES6 Cell Line	embryonic stem cell

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