Variant report

Variant	nsv1054310
Chromosome Location	chr11:84661681-84702723
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:84688116..84690229-chr11:84693313..84696189,2	K562	blood:
2	chr11:84698259..84700547-chr11:84703260..84704892,2	MCF-7	breast:
3	chr11:84659697..84661496-chr11:84663828..84666456,2	K562	blood:
4	chr11:84688116..84690229-chr11:84693313..84696189,2	K562	blood:
5	chr11:84491891..84492728-chr11:84673979..84674886,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM126B-1	chr11:84666384-84666749	ENSG00000255555.1

No data

Extended variants
information (count: 716 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6592221	chr11:84661681-84661682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117400675	chr11:84661712-84661713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556032631	chr11:84661732-84661733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181906794	chr11:84661749-84661750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544964569	chr11:84661762-84661763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186550886	chr11:84661763-84661764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35040490	chr11:84661773-84661774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559751891	chr11:84661788-84661789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527273283	chr11:84661798-84661799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6592222	chr11:84661830-84661831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560615971	chr11:84661872-84661873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117484736	chr11:84661906-84661907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191502269	chr11:84661933-84661934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183560882	chr11:84661999-84662000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540168844	chr11:84662005-84662006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540118977	chr11:84662010-84662011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144143745	chr11:84662012-84662013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147327220	chr11:84662057-84662058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140983202	chr11:84662085-84662086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11234251	chr11:84662175-84662176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs12295587	chr11:84662192-84662193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371174564	chr11:84662198-84662199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75936149	chr11:84662230-84662231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537948560	chr11:84662293-84662294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559693149	chr11:84662298-84662299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577748157	chr11:84662306-84662307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74358329	chr11:84662334-84662335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553621991	chr11:84662363-84662364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571725025	chr11:84662367-84662368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542177756	chr11:84662381-84662382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553223303	chr11:84666200-84666201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79096934	chr11:84666206-84666207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373912227	chr11:84666219-84666220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557178062	chr11:84666265-84666266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181139085	chr11:84666294-84666295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374891872	chr11:84666320-84666321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554238588	chr11:84666321-84666322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146308061	chr11:84666324-84666325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139374943	chr11:84666333-84666334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540558222	chr11:84666338-84666339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543337576	chr11:84666355-84666356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565742244	chr11:84666357-84666358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185583410	chr11:84666377-84666378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528882850	chr11:84666483-84666484	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577921803	chr11:84666503-84666504	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs550595211	chr11:84666507-84666508	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs532203939	chr11:84666509-84666510	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143294219	chr11:84666534-84666535	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs537058457	chr11:84666566-84666567	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs35528953	chr11:84666568-84666569	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	17142309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84660800-84662200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:84662200-84662400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:84666200-84667400	Enhancers	Colon Smooth Muscle	Colon
4	chr11:84666400-84667600	Enhancers	Fetal Stomach	stomach
5	chr11:84667000-84667600	Enhancers	Ovary	ovary
6	chr11:84667600-84668800	Weak transcription	Fetal Stomach	stomach
7	chr11:84668800-84669000	Enhancers	Fetal Stomach	stomach
8	chr11:84669000-84669600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:84673000-84673200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:84673000-84674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:84673200-84673600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:84673200-84676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:84674000-84674200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:84676200-84677200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:84676200-84677200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:84676200-84677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:84676200-84677400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:84676200-84677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:84676200-84677600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:84676400-84677000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:84676400-84677200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:84677000-84677400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:84677600-84683000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:84679800-84680200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:84683000-84683600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:84694200-84694600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:84696400-84697000	Weak transcription	Fetal Brain Male	brain
28	chr11:84701000-84701600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:84701200-84701600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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