Variant report

Variant	nsv818988
Chromosome Location	chr2:10990198-11009610
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10977871..10980500-chr2:11005633..11008037,2	K562	blood:
2	chr2:10991676..10994429-chr2:11002075..11003826,2	MCF-7	breast:
3	chr2:10992363..10995021-chr2:11001417..11003559,2	MCF-7	breast:
4	chr17:57286248..57288244-chr2:10996304..10999304,3	MCF-7	breast:
5	chr2:10985782..10988712-chr2:10994625..10996971,2	MCF-7	breast:
6	chr2:10995290..10996940-chr2:11004207..11006833,2	K562	blood:
7	chr2:10995135..10997593-chr2:11000724..11002414,2	MCF-7	breast:
8	chr2:11003538..11006604-chr2:11008234..11012056,3	K562	blood:
9	chr2:11003538..11006604-chr2:11008234..11012056,3	K562	blood:
10	chr2:10992363..10995021-chr2:11001417..11003559,2	MCF-7	breast:
11	chr2:10998573..11001365-chr2:11007303..11010110,2	MCF-7	breast:
12	chr2:10991676..10994429-chr2:11002075..11003826,2	MCF-7	breast:
13	chr17:57286871..57287559-chr2:10997786..10998303,2	MCF-7	breast:
14	chr17:57286952..57287573-chr2:10997786..10998306,2	HCT-116	colon:
15	chr2:10995290..10996940-chr2:11004207..11006833,2	K562	blood:
16	chr2:11005104..11006901-chr2:11009100..11012056,2	K562	blood:
17	chr2:11005078..11005780-chr2:11040335..11040915,2	MCF-7	breast:
18	chr2:10998573..11001365-chr2:11007303..11010110,2	MCF-7	breast:
19	chr2:11005104..11006901-chr2:11009100..11012056,2	K562	blood:
20	chr2:10984035..10986902-chr2:10994929..10997652,2	MCF-7	breast:
21	chr2:10995135..10997593-chr2:11000724..11002414,2	MCF-7	breast:
22	chr2:10981284..10984064-chr2:11000777..11002572,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143870	chromatin interactions
ENSG00000232056	chromatin interactions
ENSG00000167447	chromatin interactions

Extended variants
information (count: 938 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11687477	chr2:10990198-10990199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530443223	chr2:10990235-10990236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542082196	chr2:10990259-10990260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146058520	chr2:10990339-10990340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569688127	chr2:10990346-10990347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1686463	chr2:10990360-10990361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1734398	chr2:10990371-10990372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532071597	chr2:10990378-10990379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1686462	chr2:10990396-10990397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568932632	chr2:10990407-10990408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536581810	chr2:10990419-10990420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548480690	chr2:10990421-10990422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191476593	chr2:10990462-10990463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13017977	chr2:10990475-10990476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1734399	chr2:10990481-10990482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188688093	chr2:10990532-10990533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35134219	chr2:10990542-10990543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2969891	chr2:10990594-10990595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181435961	chr2:10990622-10990623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370797188	chr2:10990632-10990633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574920721	chr2:10990652-10990653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1686461	chr2:10990653-10990654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560410645	chr2:10990684-10990685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12994187	chr2:10990729-10990730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185338731	chr2:10990737-10990738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139998167	chr2:10990773-10990774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1734400	chr2:10990801-10990802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35076118	chr2:10990810-10990811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564681730	chr2:10990824-10990825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532257947	chr2:10990825-10990826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142276389	chr2:10990833-10990834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562729040	chr2:10990850-10990851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569537779	chr2:10990852-10990853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531909543	chr2:10990861-10990862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78626212	chr2:10990862-10990863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11687694	chr2:10990877-10990878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548646209	chr2:10990882-10990883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139319144	chr2:10990919-10990920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113895854	chr2:10991022-10991023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552563484	chr2:10991047-10991048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190215595	chr2:10991057-10991058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368614498	chr2:10991081-10991082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538370473	chr2:10991103-10991104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556362314	chr2:10991104-10991105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568452265	chr2:10991105-10991106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562088942	chr2:10991117-10991118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182398795	chr2:10991141-10991142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6718064	chr2:10991144-10991145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187410792	chr2:10991181-10991182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546154472	chr2:10991190-10991191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10979400-11000400	Weak transcription	Fetal Brain Male	brain
2	chr2:10987200-10990800	Weak transcription	Psoas Muscle	Psoas
3	chr2:10988200-10993600	Weak transcription	Right Ventricle	heart
4	chr2:10988400-10993600	Weak transcription	Left Ventricle	heart
5	chr2:10988800-10993800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:10989000-10990800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:10989200-11003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:10989800-10996800	Weak transcription	Right Atrium	heart
9	chr2:10990800-10991000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:10990800-10991000	Enhancers	Psoas Muscle	Psoas
11	chr2:10993600-10994200	Enhancers	Left Ventricle	heart
12	chr2:10993600-10995000	Enhancers	Right Ventricle	heart
13	chr2:10993800-10994200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:10994200-10994600	Weak transcription	Left Ventricle	heart
15	chr2:10994200-11004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:10994600-10995600	Enhancers	Left Ventricle	heart
17	chr2:10994800-10995200	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:10994800-10995200	Enhancers	Fetal Muscle Leg	muscle
19	chr2:10995000-10999200	Weak transcription	Right Ventricle	heart
20	chr2:10995600-10996600	Genic enhancers	Left Ventricle	heart
21	chr2:10996600-11000200	Weak transcription	Left Ventricle	heart
22	chr2:10996800-10998000	Enhancers	Right Atrium	heart
23	chr2:10998600-10998800	Enhancers	Fetal Heart	heart
24	chr2:10998800-11003400	Weak transcription	Fetal Heart	heart
25	chr2:10999200-10999600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:10999200-10999600	Enhancers	Stomach Mucosa	stomach
27	chr2:10999200-10999800	Enhancers	Right Ventricle	heart
28	chr2:10999600-11000400	Enhancers	Fetal Lung	lung
29	chr2:10999600-11000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:10999800-11000200	Weak transcription	Right Ventricle	heart
31	chr2:11000200-11000400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11000200-11001600	Enhancers	Gastric	stomach
33	chr2:11000200-11003400	Enhancers	Right Atrium	heart
34	chr2:11000200-11004200	Enhancers	Right Ventricle	heart
35	chr2:11000200-11007000	Enhancers	Left Ventricle	heart
36	chr2:11000400-11007200	Enhancers	Fetal Brain Male	brain
37	chr2:11000600-11007200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:11000800-11001000	Enhancers	Brain Anterior Caudate	brain
39	chr2:11000800-11001400	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:11000800-11001600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:11000800-11002000	Enhancers	Primary T cells from cord blood	blood
42	chr2:11000800-11002200	Enhancers	Brain Angular Gyrus	brain
43	chr2:11000800-11002200	Enhancers	Fetal Thymus	thymus
44	chr2:11000800-11006200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:11001200-11001600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr2:11001200-11001800	Enhancers	Fetal Brain Female	brain
47	chr2:11001400-11001600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:11001400-11001600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:11001400-11001600	Enhancers	Spleen	Spleen
50	chr2:11001400-11001800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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