Variant report

Variant	nsv1047004
Chromosome Location	chr11:84328458-84364594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:84344635-84344903	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr11:84348157-84348515	MCF-7	breast:	n/a	n/a
3	CEBPB	chr11:84362186-84362420	HepG2	liver:	n/a	chr11:84362314-84362325
4	CHD1	chr11:84359471-84359655	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr11:84359510-84359789	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:84353569-84353818	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:84353548-84353922	T-47D	breast:	n/a	n/a
8	CTCF	chr11:84353680-84353830	RPTEC	kidney:	n/a	n/a
9	CTCF	chr11:84353663-84353750	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:84353620-84353770	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:84353660-84353814	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr11:84353587-84353856	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:84353600-84353750	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr11:84353600-84353750	HepG2	liver:	n/a	n/a
15	CTCF	chr11:84353640-84353790	SAEC	small airway:	n/a	n/a
16	CTCF	chr11:84353660-84353810	SAEC	small airway:	n/a	n/a
17	CTCF	chr11:84353600-84353750	NHEK	skin:	n/a	n/a
18	CTCF	chr11:84353559-84353987	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:84353669-84353798	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:84353621-84353884	T-47D	breast:	n/a	n/a
21	CTCF	chr11:84353575-84353789	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:84353640-84353790	NHEK	skin:	n/a	n/a
23	CTCF	chr11:84353681-84353777	NHEK	skin:	n/a	n/a
24	CTCF	chr11:84353660-84353810	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:84353509-84353909	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:84353592-84353853	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:84353640-84353790	Caco-2	colon:	n/a	n/a
28	CTCF	chr11:84353647-84353759	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:84353600-84353750	HMEC	breast:	n/a	n/a
30	E2F4	chr11:84363149-84363338	MCF10A-Er-Src	breast:	n/a	n/a
31	ESR1	chr11:84348925-84349318	T-47D	breast:	n/a	n/a
32	ESR1	chr11:84348873-84349381	T-47D	breast:	n/a	n/a
33	FOXA1	chr11:84342027-84342258	T-47D	breast:	n/a	n/a
34	FOXA1	chr11:84341793-84342019	T-47D	breast:	n/a	n/a
35	FOXA1	chr11:84341942-84342307	T-47D	breast:	n/a	n/a
36	FOXA1	chr11:84348162-84348449	T-47D	breast:	n/a	n/a
37	FOXA1	chr11:84348945-84349216	T-47D	breast:	n/a	n/a
38	FOXA1	chr11:84348950-84349286	T-47D	breast:	n/a	n/a
39	FOXA1	chr11:84349734-84349974	T-47D	breast:	n/a	n/a
40	FOXA1	chr11:84348112-84348452	T-47D	breast:	n/a	n/a
41	GATA3	chr11:84348902-84349309	T-47D	breast:	n/a	n/a
42	GATA3	chr11:84348042-84348537	T-47D	breast:	n/a	n/a
43	GATA3	chr11:84348190-84348470	MCF-7	breast:	n/a	n/a
44	GATA3	chr11:84348800-84349395	MCF-7	breast:	n/a	n/a
45	GATA3	chr11:84339480-84339627	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr11:84341755-84342102	T-47D	breast:	n/a	n/a
47	GATA3	chr11:84333393-84333567	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr11:84348159-84348474	MCF-7	breast:	n/a	n/a
49	GATA3	chr11:84348111-84348551	T-47D	breast:	n/a	n/a
50	GATA3	chr11:84348560-84349340	T-47D	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
2	chr11:84353205..84353720-chr11:84425398..84425994,2	MCF-7	breast:
3	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
4	chr11:84189421..84191994-chr11:84344935..84346949,2	K562	blood:
5	chr11:84346226..84348368-chr11:84348701..84351373,2	MCF-7	breast:
6	chr11:84353266..84354226-chr11:84425005..84426301,12	MCF-7	breast:
7	chr11:84341502..84343647-chr11:84513297..84515436,2	MCF-7	breast:
8	chr11:84360777..84362282-chr11:84396654..84399433,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000240174	TF binding region
ENSG00000240174	chromatin interactions

Extended variants
information (count: 1290 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1290 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575941251	chr11:84328507-84328508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543064512	chr11:84328614-84328615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61898995	chr11:84328652-84328653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532090420	chr11:84328698-84328699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551529038	chr11:84328724-84328725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs68038267	chr11:84328737-84328738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148869154	chr11:84328972-84328973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191200963	chr11:84328973-84328974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183030339	chr11:84328993-84328994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116821941	chr11:84329023-84329024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576037948	chr11:84329029-84329030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145061582	chr11:84329108-84329109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187527055	chr11:84329111-84329112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529457000	chr11:84329114-84329115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553886708	chr11:84329116-84329117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17147448	chr11:84329118-84329119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190092786	chr11:84329166-84329167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543328898	chr11:84329208-84329209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183343801	chr11:84329229-84329230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138856868	chr11:84329249-84329250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141982013	chr11:84329254-84329255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558148607	chr11:84329295-84329296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576481382	chr11:84329298-84329299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115198655	chr11:84329311-84329312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199879745	chr11:84329359-84329360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145635729	chr11:84329390-84329391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187514410	chr11:84329412-84329413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192652572	chr11:84329417-84329418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76460198	chr11:84329463-84329464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116604666	chr11:84329507-84329508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532061097	chr11:84329516-84329517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148178351	chr11:84329522-84329523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377295509	chr11:84329538-84329539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571673804	chr11:84329560-84329561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370940668	chr11:84329589-84329590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182699197	chr11:84329653-84329654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369848861	chr11:84329663-84329664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566213678	chr11:84329712-84329713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536040042	chr11:84329731-84329732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560907744	chr11:84329789-84329790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187723146	chr11:84329802-84329803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192678021	chr11:84329810-84329811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374370594	chr11:84329841-84329842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184170129	chr11:84329853-84329854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374495884	chr11:84329883-84329884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558087260	chr11:84329892-84329893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543139891	chr11:84329893-84329894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572794116	chr11:84330007-84330008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539798408	chr11:84330010-84330011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552770306	chr11:84330018-84330019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
small cell lung cancer	20016488	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84326200-84331400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:84331400-84332000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:84332000-84332600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:84332600-84333200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:84333200-84333600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr11:84336000-84339600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:84337200-84337600	Enhancers	Fetal Heart	heart
8	chr11:84337400-84337800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:84339600-84341000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:84339800-84340400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:84339800-84340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:84339800-84340800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:84339800-84341200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr11:84340400-84345800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:84340800-84346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:84341200-84342400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:84342400-84342800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:84342800-84345400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:84344200-84344800	Enhancers	Fetal Heart	heart
20	chr11:84344400-84344800	Enhancers	Psoas Muscle	Psoas
21	chr11:84344400-84344800	Enhancers	HSMMtube	muscle
22	chr11:84344800-84346000	Weak transcription	HSMMtube	muscle
23	chr11:84345200-84346000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:84345400-84345800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:84345800-84346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:84345800-84346200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:84345800-84346400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:84345800-84346400	Enhancers	Pancreas	Pancrea
29	chr11:84346000-84346400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:84346000-84346400	Enhancers	HSMMtube	muscle
31	chr11:84346200-84348600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:84348600-84349200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:84349200-84349600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:84349600-84366800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:84355800-84356200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:84356200-84358200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:84356200-84359200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:84356800-84357400	Enhancers	Fetal Brain Male	brain
39	chr11:84356800-84358000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:84356800-84358000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:84356800-84358200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:84356800-84359200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:84357000-84357200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:84357000-84357400	Enhancers	A549	lung
45	chr11:84357000-84357400	Enhancers	HepG2	liver
46	chr11:84357000-84357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:84357000-84357600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:84357200-84357600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:84357200-84357800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:84357200-84358000	Enhancers	H9 Cell Line	embryonic stem cell

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