Variant report

Variant	nsv898075
Chromosome Location	chr11:87278074-87375119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:87346802-87346891	K562	blood:	n/a	n/a
2	CEBPB	chr11:87293865-87294179	HepG2	liver:	n/a	chr11:87294000-87294011
3	CEBPB	chr11:87293898-87294185	A549	lung:	n/a	chr11:87294000-87294011
4	CEBPB	chr11:87337055-87337224	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:87293866-87294156	IMR90	lung:	n/a	chr11:87294000-87294011
6	CTCF	chr11:87373360-87373510	GM12864	blood:	n/a	n/a
7	CTCF	chr11:87374500-87374650	BJ	skin:	n/a	chr11:87374633-87374640
8	CTCF	chr11:87308720-87308870	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr11:87283800-87283950	BJ	skin:	n/a	n/a
10	CTCF	chr11:87339237-87339300	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:87283840-87283990	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr11:87322713-87322746	GM20000	blood:	n/a	n/a
13	CTCF	chr11:87308086-87308087	GM20000	blood:	n/a	n/a
14	CTCF	chr11:87346820-87346970	GM12867	blood:	n/a	n/a
15	CTCF	chr11:87370880-87371030	GM12869	blood:	n/a	n/a
16	CTCF	chr11:87292740-87292890	GM12872	blood:	n/a	n/a
17	CTCF	chr11:87361340-87361490	NHLF	lung:	n/a	n/a
18	CUX1	chr11:87328552-87328652	GM12878	blood:	n/a	n/a
19	E2F4	chr11:87335549-87335749	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr11:87340432-87340450	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr11:87325589-87325670	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr11:87338658-87338812	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr11:87314972-87315220	GM12878	blood:	n/a	chr11:87315092-87315103
24	EBF1	chr11:87314968-87315182	GM12878	blood:	n/a	chr11:87315092-87315103
25	FOS	chr11:87294529-87295694	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:87313777-87313983	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:87313809-87313934	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:87315328-87315513	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:87294477-87295233	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr11:87343321-87343452	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr11:87359952-87360308	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:87295562-87295693	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:87294478-87295227	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr11:87293905-87294020	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:87359937-87360272	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:87359948-87360306	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:87313740-87313995	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:87294491-87295181	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr11:87308790-87308992	T-47D	breast:	n/a	n/a
40	FOXA1	chr11:87334449-87334729	HepG2	liver:	n/a	n/a
41	FOXA1	chr11:87368921-87369323	HepG2	liver:	n/a	n/a
42	FOXA2	chr11:87334262-87334782	A549	lung:	n/a	n/a
43	FOXA2	chr11:87368937-87369330	A549	lung:	n/a	n/a
44	FOXA2	chr11:87368837-87369474	A549	lung:	n/a	n/a
45	FOXA2	chr11:87334449-87334791	A549	lung:	n/a	n/a
46	GATA3	chr11:87314031-87314528	SK-N-SH	brain:	n/a	chr11:87314314-87314335
47	GATA3	chr11:87296584-87296806	MCF-7	breast:	n/a	n/a
48	GATA3	chr11:87325720-87326113	T-47D	breast:	n/a	n/a
49	GATA3	chr11:87325759-87326079	MCF-7	breast:	n/a	n/a
50	GATA3	chr11:87319623-87319812	SH-SY5Y	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:87284530-87284580	SK-N-SH_RA	brain:	n/a
2	chr11:87284530-87284580	AG04450	lung:	fetal
3	chr11:87284530-87284580	BJ	skin:	n/a
4	chr11:87284530-87284580	NHDF-neo	bronchial:	n/a
5	chr11:87284530-87284580	AoSMC	blood vessel:	n/a
6	chr11:87284530-87284580	HRPEpiC	eye:	n/a
7	chr11:87284530-87284580	Jurkat	blood:	n/a
8	chr11:87284530-87284580	AG09319	gingival:	n/a
9	chr11:87284530-87284580	HMEC	breast:	n/a
10	chr11:87284530-87284580	CMK	blood:	n/a
11	chr11:87284530-87284580	GM12892	blood:	n/a
12	chr11:87284530-87284580	U87	brain:	n/a
13	chr11:87284530-87284580	HCPEpiC	choroid plexus:	n/a
14	chr11:87284530-87284580	PFSK-1	brain:	n/a
15	chr11:87284530-87284580	SAEC	small airway:	n/a
16	chr11:87284530-87284580	MCF-7	breast:	n/a
17	chr11:87284530-87284580	HNPCEpiC	eye:	n/a
18	chr11:87284530-87284580	HUVEC	blood vessel:	n/a
19	chr11:87284530-87284580	ECC-1	luminal epithelium:	n/a
20	chr11:87284530-87284580	MCF10A-Er-Src	breast:	n/a
21	chr11:87284530-87284580	NT2-D1	testis:	n/a
22	chr11:87284530-87284580	PrEC	prostate:	n/a
23	chr11:87284530-87284580	HRCEpiC	kidney:	n/a
24	chr11:87284530-87284580	IMR90	lung:	fetal
25	chr11:87284530-87284580	HIPEpiC	eye:	n/a
26	chr11:87284530-87284580	BE2_C	brain:	n/a
27	chr11:87284530-87284580	GM12891	blood:	n/a
28	chr11:87284530-87284580	Hela-S3	cervix:	n/a
29	chr11:87284530-87284580	RPTEC	kidney:	n/a
30	chr11:87284530-87284580	NHBE	bronchial:	n/a
31	chr11:87284530-87284580	HRE	kidney:	n/a
32	chr11:87284530-87284580	GM06990	blood:	n/a
33	chr11:87284530-87284580	HEK293	kidney:	embryo
34	chr11:87284530-87284580	HL-60	blood:	n/a
35	chr11:87284530-87284580	HCT-116	colon:	n/a
36	chr11:87284530-87284580	Hepatocyte	liver:	n/a
37	chr11:87284530-87284580	GM12878	blood:	n/a
38	chr11:87284530-87284580	AG09309	skin:	n/a
39	chr11:87284530-87284580	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:87284530-87284580	T-47D	breast:	n/a
41	chr11:87284530-87284580	HCM	heart:	n/a
42	chr11:87284530-87284580	PANC-1	pancreas:	n/a
43	chr11:87284530-87284580	H1-hESC	embryonic stem cell:	embryo
44	chr11:87284530-87284580	ovcar-3	ovarian:	n/a
45	chr11:87284530-87284580	ProgFib	skin:	n/a
46	chr11:87284530-87284580	HepG2	liver:	n/a
47	chr11:87284530-87284580	AG10803	skin:	n/a
48	chr11:87284530-87284580	SKMC	muscle:	n/a
49	chr11:87284530-87284580	LNCaP	prostate:	n/a
50	chr11:87284530-87284580	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
RNU6-1063P	TF binding region
RNU6-1135P	TF binding region
RNU6-1063P	CpG island
RNU6-1135P	CpG island

Extended variants
information (count: 2726 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2726 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560519463	chr11:87282300-87282301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35723216	chr11:87282304-87282305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397937723	chr11:87282306-87282307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557673529	chr11:87282344-87282345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11604094	chr11:87282361-87282362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533769434	chr11:87282388-87282389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189047125	chr11:87282392-87282393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376541273	chr11:87282404-87282405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369750310	chr11:87282431-87282432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181356701	chr11:87282463-87282464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142804417	chr11:87282477-87282478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145053647	chr11:87282482-87282483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185633945	chr11:87282484-87282485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565604064	chr11:87282495-87282496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200011075	chr11:87282519-87282520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111456361	chr11:87282523-87282524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376946191	chr11:87282524-87282525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113440324	chr11:87282555-87282556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34324894	chr11:87282567-87282568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148313026	chr11:87282599-87282600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561345678	chr11:87282601-87282602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11235209	chr11:87282643-87282644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529018015	chr11:87282648-87282649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180985379	chr11:87282666-87282667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141473862	chr11:87282720-87282721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185762506	chr11:87282729-87282730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111419429	chr11:87282814-87282815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4366514	chr11:87282847-87282848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373794152	chr11:87282896-87282897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571244884	chr11:87282897-87282898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533344231	chr11:87282910-87282911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7927078	chr11:87282914-87282915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115557746	chr11:87282925-87282926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567356273	chr11:87282931-87282932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536435513	chr11:87282965-87282966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192327497	chr11:87282994-87282995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369711814	chr11:87283003-87283004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183202841	chr11:87283010-87283011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545452251	chr11:87283025-87283026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559006914	chr11:87283081-87283082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572444184	chr11:87283111-87283112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541364462	chr11:87283116-87283117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561588729	chr11:87283152-87283153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530272699	chr11:87283161-87283162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543994356	chr11:87283239-87283240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117253040	chr11:87283254-87283255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186050406	chr11:87283275-87283276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551030937	chr11:87283301-87283302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190413513	chr11:87283320-87283321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527250643	chr11:87283340-87283341	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	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87282200-87282800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:87282800-87285400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:87283600-87284200	Enhancers	Fetal Lung	lung
4	chr11:87284400-87285800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:87284400-87286000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:87284600-87286000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:87284600-87286200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:87284600-87286600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:87284800-87285400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:87284800-87285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:87284800-87286200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:87285200-87285600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:87285400-87286200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:87285400-87286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:87285400-87286400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:87286400-87286600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:87290000-87291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:87290200-87290600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:87294400-87295400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:87294400-87295600	Enhancers	HMEC	breast
21	chr11:87294400-87295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:87294800-87295600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:87295000-87295600	Enhancers	NHEK	skin
24	chr11:87295800-87296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:87296200-87296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:87296400-87313600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:87300000-87300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:87306200-87308000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:87306600-87307600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:87307600-87308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:87308600-87308800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:87308600-87309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:87308800-87309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:87309400-87309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:87311600-87312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:87311800-87312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:87313600-87314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:87314200-87314600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:87314600-87315600	Enhancers	Aorta	Aorta
40	chr11:87314600-87315600	Enhancers	Psoas Muscle	Psoas
41	chr11:87314600-87315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:87314600-87315800	Enhancers	HMEC	breast
43	chr11:87314800-87315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:87314800-87315600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:87314800-87315600	Enhancers	NHEK	skin
46	chr11:87315000-87315400	Enhancers	Gastric	stomach
47	chr11:87315000-87315400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:87315000-87315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:87315000-87315600	Enhancers	Pancreas	Pancrea
50	chr11:87315000-87315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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