Variant report

Variant	nsv555614
Chromosome Location	chr11:84267185-84345829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84260699..84261603-chr11:84275042..84275969,2	MCF-7	breast:
2	chr11:84269617..84270472-chr11:84425387..84425965,2	MCF-7	breast:
3	chr11:84276005..84278471-chr11:84278916..84281789,2	MCF-7	breast:
4	chr11:84341502..84343647-chr11:84513297..84515436,2	MCF-7	breast:
5	chr11:84269134..84270255-chr11:84430304..84431248,5	MCF-7	breast:
6	chr11:84189421..84191994-chr11:84344935..84346949,2	K562	blood:
7	chr11:84280312..84283130-chr11:84397090..84398747,2	MCF-7	breast:
8	chr11:84300252..84301852-chr20:44562051..44563883,2	MCF-7	breast:
9	chr11:84268829..84269798-chr11:84425022..84425965,7	MCF-7	breast:
10	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
11	chr11:84268874..84269428-chr11:84491493..84492369,2	MCF-7	breast:
12	chr11:84269079..84271717-chr11:84447544..84450102,2	MCF-7	breast:
13	chr11:84269078..84270239-chr11:85301825..85302485,3	MCF-7	breast:
14	chr11:84268928..84269579-chr11:84425061..84426012,3	MCF-7	breast:
15	chr11:84276005..84278471-chr11:84278916..84281789,2	MCF-7	breast:
16	chr11:84101555..84102182-chr11:84275381..84276078,3	MCF-7	breast:
17	chr11:84265904..84268550-chr11:84272866..84275425,2	K562	blood:
18	chr11:84331138..84333435-chr11:84335070..84336860,2	MCF-7	breast:
19	chr11:84270260..84272879-chr11:84274158..84275697,2	MCF-7	breast:
20	chr11:84266119..84270134-chr11:84272425..84277265,4	MCF-7	breast:
21	chr11:84275372..84277697-chr11:84285469..84287764,2	MCF-7	breast:
22	chr11:84275372..84277697-chr11:84285469..84287764,2	MCF-7	breast:
23	chr11:84265904..84268550-chr11:84272866..84275425,2	K562	blood:
24	chr11:84266119..84270134-chr11:84272425..84277265,4	MCF-7	breast:
25	chr11:84270260..84272879-chr11:84274158..84275697,2	MCF-7	breast:
26	chr11:84310262..84312243-chr11:84312847..84315760,2	MCF-7	breast:
27	chr11:84274871..84276645-chr11:84399735..84401764,2	MCF-7	breast:
28	chr1:93644235..93646681-chr11:84291814..84294757,2	MCF-7	breast:
29	chr11:84310262..84312243-chr11:84312847..84315760,2	MCF-7	breast:
30	chr11:84252863..84255675-chr11:84267992..84270497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117500	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000100982	chromatin interactions

Extended variants
information (count: 2713 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2713 , 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	rs7128948	chr11:84267185-84267186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539945462	chr11:84267192-84267193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191158484	chr11:84267210-84267211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76299691	chr11:84267218-84267219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548396969	chr11:84267236-84267237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373910437	chr11:84267254-84267255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183279957	chr11:84267261-84267262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145369310	chr11:84267297-84267298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552879390	chr11:84267302-84267303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377410922	chr11:84267314-84267315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75601012	chr11:84267355-84267356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137917171	chr11:84267356-84267357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112978736	chr11:84267360-84267361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568588060	chr11:84267401-84267402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116546902	chr11:84267417-84267418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557200124	chr11:84267443-84267444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575446882	chr11:84267484-84267485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539351627	chr11:84267485-84267486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558075735	chr11:84267533-84267534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368406176	chr11:84267555-84267556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150081421	chr11:84267557-84267558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556076781	chr11:84267599-84267600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76273678	chr11:84267605-84267606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551867475	chr11:84267622-84267623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573418917	chr11:84267641-84267642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541979931	chr11:84267675-84267676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563726805	chr11:84267677-84267678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531175177	chr11:84267752-84267753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187494286	chr11:84267758-84267759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564828860	chr11:84267763-84267764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528445315	chr11:84267779-84267780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577496498	chr11:84267799-84267800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565259310	chr11:84267815-84267816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367730355	chr11:84267823-84267824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547030353	chr11:84267825-84267826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568523835	chr11:84267855-84267856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138672193	chr11:84267866-84267867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551144036	chr11:84267899-84267900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374708783	chr11:84267958-84267959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561924391	chr11:84267982-84267983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191374871	chr11:84267983-84267984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557748491	chr11:84268012-84268013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530889516	chr11:84268099-84268100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117439850	chr11:84268121-84268122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61898960	chr11:84268176-84268177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572174171	chr11:84268192-84268193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540382821	chr11:84268229-84268230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80069537	chr11:84268302-84268303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375256336	chr11:84268310-84268311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573356340	chr11:84268365-84268366	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
Autism	19246517	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84254800-84269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:84256800-84269800	Weak transcription	Fetal Brain Male	brain
3	chr11:84264400-84280600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:84269200-84270200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:84269400-84269600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr11:84269400-84269600	Enhancers	A549	lung
7	chr11:84269400-84269800	Enhancers	Fetal Intestine Small	intestine
8	chr11:84269400-84270000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:84269400-84270000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:84269400-84270200	Enhancers	HepG2	liver
11	chr11:84269600-84270000	Enhancers	Liver	Liver
12	chr11:84269600-84270000	Enhancers	Fetal Intestine Large	intestine
13	chr11:84269600-84270000	Flanking Active TSS	A549	lung
14	chr11:84269600-84270200	Enhancers	Fetal Brain Female	brain
15	chr11:84269600-84271800	Enhancers	Brain Germinal Matrix	brain
16	chr11:84269600-84272000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:84269800-84270200	Enhancers	Fetal Brain Male	brain
18	chr11:84269800-84275000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:84270000-84270400	Enhancers	A549	lung
20	chr11:84270000-84271000	Weak transcription	Liver	Liver
21	chr11:84270000-84275000	Weak transcription	Fetal Intestine Large	intestine
22	chr11:84270200-84270600	Weak transcription	Fetal Brain Female	brain
23	chr11:84270200-84271200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr11:84270200-84271400	Weak transcription	Fetal Brain Male	brain
25	chr11:84270200-84275000	Weak transcription	HepG2	liver
26	chr11:84270400-84272400	Weak transcription	A549	lung
27	chr11:84270600-84272000	Enhancers	Fetal Brain Female	brain
28	chr11:84271000-84271800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:84271000-84273600	Enhancers	Liver	Liver
30	chr11:84271200-84274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:84271400-84271600	Enhancers	Fetal Brain Male	brain
32	chr11:84271600-84275000	Weak transcription	Fetal Brain Male	brain
33	chr11:84271800-84274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:84271800-84277800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:84272000-84274200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:84272000-84274200	Weak transcription	Fetal Brain Female	brain
37	chr11:84272400-84273000	Enhancers	A549	lung
38	chr11:84273000-84274400	Weak transcription	A549	lung
39	chr11:84273600-84274600	Weak transcription	Liver	Liver
40	chr11:84273800-84274600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:84274200-84275600	Enhancers	Fetal Brain Female	brain
42	chr11:84274200-84275800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:84274400-84274800	Enhancers	Brain Angular Gyrus	brain
44	chr11:84274400-84274800	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:84274400-84275000	Enhancers	A549	lung
46	chr11:84274400-84275200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr11:84274400-84275400	Enhancers	Brain Hippocampus Middle	brain
48	chr11:84274400-84275800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:84274600-84275200	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:84274600-84275200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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