Variant report

Variant	nsv975954
Chromosome Location	chr11:77600915-77617903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 567 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546177029	chr11:77600963-77600964	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181262621	chr11:77600985-77600986	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540698598	chr11:77601000-77601001	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576213624	chr11:77601116-77601117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541547989	chr11:77601128-77601129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561412823	chr11:77601136-77601137	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375949004	chr11:77601137-77601138	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368784622	chr11:77601148-77601149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550727624	chr11:77601158-77601159	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547322958	chr11:77601195-77601196	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183957306	chr11:77601258-77601259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146958398	chr11:77601269-77601270	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550085912	chr11:77601274-77601275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113762123	chr11:77601317-77601318	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535614800	chr11:77601364-77601365	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548715186	chr11:77601442-77601443	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568498592	chr11:77601449-77601450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568948996	chr11:77601495-77601496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539459049	chr11:77601543-77601544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61900177	chr11:77601547-77601548	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs117943547	chr11:77601571-77601572	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573467564	chr11:77601590-77601591	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534456410	chr11:77601605-77601606	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555782672	chr11:77601650-77601651	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56336486	chr11:77601683-77601684	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61900179	chr11:77601685-77601686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61900180	chr11:77601696-77601697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1893926	chr11:77601721-77601722	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533941443	chr11:77601768-77601769	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188090936	chr11:77601785-77601786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577158034	chr11:77601831-77601832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540160989	chr11:77601860-77601861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181943475	chr11:77601887-77601888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186322502	chr11:77601899-77601900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11512969	chr11:77601954-77601955	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555048324	chr11:77601990-77601991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572153833	chr11:77602046-77602047	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540762064	chr11:77602089-77602090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564144517	chr11:77602133-77602134	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577690220	chr11:77602181-77602182	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201840646	chr11:77602191-77602192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532771795	chr11:77602292-77602293	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73499843	chr11:77602317-77602318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376574015	chr11:77602333-77602334	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368580064	chr11:77602334-77602335	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563538255	chr11:77602358-77602359	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138031219	chr11:77602376-77602377	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529109168	chr11:77602414-77602415	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549150331	chr11:77602418-77602419	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565732679	chr11:77602426-77602427	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	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
Breast cancer	17142309	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
2	chr11:77578800-77601400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:77579200-77625000	Weak transcription	HMEC	breast
4	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
6	chr11:77586600-77625000	Weak transcription	Stomach Mucosa	stomach
7	chr11:77587200-77617600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:77587800-77603800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:77588200-77614000	Weak transcription	Right Ventricle	heart
10	chr11:77591200-77605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:77592400-77602400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:77592800-77605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
15	chr11:77593800-77625000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:77594000-77602000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:77595400-77620000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:77595800-77671000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:77597400-77617400	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:77597400-77625000	Weak transcription	A549	lung
21	chr11:77597600-77601600	Weak transcription	Fetal Brain Female	brain
22	chr11:77597600-77603000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:77597600-77617400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:77597600-77629400	Weak transcription	Brain Germinal Matrix	brain
25	chr11:77597800-77601000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:77597800-77601200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:77597800-77601200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:77597800-77601200	Weak transcription	Hela-S3	cervix
29	chr11:77597800-77601200	Weak transcription	HepG2	liver
30	chr11:77597800-77601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:77597800-77601400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:77597800-77601600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:77597800-77601600	Weak transcription	Fetal Stomach	stomach
34	chr11:77597800-77602000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:77597800-77602000	Weak transcription	Fetal Intestine Small	intestine
36	chr11:77597800-77602200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:77597800-77602200	Weak transcription	Brain Substantia Nigra	brain
38	chr11:77597800-77602200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:77597800-77602400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:77597800-77602400	Weak transcription	NH-A	brain
41	chr11:77597800-77603800	Weak transcription	NHLF	lung
42	chr11:77597800-77604000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:77597800-77605600	Weak transcription	Fetal Lung	lung
44	chr11:77597800-77609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:77597800-77612200	Weak transcription	Brain Anterior Caudate	brain
46	chr11:77597800-77613600	Weak transcription	Fetal Intestine Large	intestine
47	chr11:77597800-77614000	Weak transcription	Lung	lung
48	chr11:77597800-77614000	Weak transcription	HSMMtube	muscle
49	chr11:77597800-77614200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:77597800-77614200	Weak transcription	Brain Cingulate Gyrus	brain

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