Variant report

Variant	nsv549436
Chromosome Location	chr1:239632055-239678115
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:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMN2-6	chr1:239663095-239663415	NONHSAT010475
2	lnc-FMN2-6	chr1:239654549-239654637	NONHSAT010474
3	lnc-CHRM3-1	chr1:239656009-239656107	NONHSAT010472
4	lnc-FMN2-6	chr1:239663095-239663251	NONHSAT010474
5	lnc-FMN2-6	chr1:239654215-239654472	NONHSAT010474
6	lnc-FMN2-6	chr1:239654321-239654472	NONHSAT010475
7	lnc-CHRM3-1	chr1:239656009-239656107	NONHSAT010470
8	lnc-CHRM3-1	chr1:239656009-239656107	NONHSAT010473
9	lnc-CHRM3-1	chr1:239656009-239656107	NONHSAT139940

No data

Extended variants
information (count: 1665 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1665 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10754671	chr1:239632055-239632056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547862624	chr1:239632070-239632071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374456963	chr1:239632083-239632084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61834722	chr1:239632087-239632088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142602285	chr1:239632108-239632109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543218717	chr1:239632170-239632171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553504759	chr1:239632349-239632350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578131354	chr1:239632383-239632384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569781462	chr1:239632396-239632397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35143300	chr1:239632437-239632438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372542459	chr1:239632455-239632456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146909836	chr1:239632462-239632463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138607156	chr1:239632531-239632532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540628828	chr1:239632593-239632594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10925890	chr1:239632666-239632667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577649873	chr1:239632697-239632698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149248087	chr1:239632709-239632710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564698526	chr1:239632710-239632711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530930325	chr1:239632735-239632736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75650419	chr1:239632762-239632763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372966108	chr1:239632800-239632801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544085404	chr1:239632844-239632845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562370208	chr1:239632851-239632852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187792979	chr1:239632918-239632919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143468581	chr1:239632925-239632926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559523621	chr1:239632949-239632950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533447461	chr1:239632975-239632976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551631789	chr1:239633015-239633016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569506280	chr1:239633016-239633017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536858363	chr1:239633032-239633033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548819275	chr1:239633036-239633037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192171844	chr1:239633038-239633039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377090211	chr1:239633063-239633064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552910202	chr1:239633066-239633067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1938235	chr1:239633070-239633071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7522967	chr1:239633075-239633076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556787890	chr1:239633084-239633085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61834723	chr1:239633100-239633101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544050383	chr1:239633133-239633134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113677263	chr1:239633136-239633137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562331676	chr1:239633146-239633147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551456084	chr1:239633147-239633148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11804653	chr1:239633237-239633238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541391064	chr1:239633251-239633252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75514602	chr1:239633285-239633286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145995206	chr1:239633304-239633305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138688598	chr1:239633308-239633309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563445012	chr1:239633309-239633310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141822991	chr1:239633315-239633316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371031785	chr1:239633342-239633343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239620400-239635800	Weak transcription	Gastric	stomach
2	chr1:239622400-239635200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:239623400-239633800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:239623400-239640800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:239630600-239632400	Enhancers	Fetal Brain Male	brain
6	chr1:239632200-239634800	Weak transcription	Pancreas	Pancrea
7	chr1:239633600-239636800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:239633800-239634000	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:239633800-239636800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:239633800-239637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:239634000-239635400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:239634800-239635200	Enhancers	Lung	lung
13	chr1:239634800-239635200	Enhancers	Ovary	ovary
14	chr1:239634800-239635200	Enhancers	Pancreas	Pancrea
15	chr1:239635000-239636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:239635200-239635400	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:239635400-239635800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:239635800-239636000	Enhancers	Gastric	stomach
19	chr1:239641000-239645200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:239641400-239641600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr1:239645200-239645800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:239645400-239658000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:239645800-239646800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:239646000-239647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:239646400-239647800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:239646600-239647000	Enhancers	Colon Smooth Muscle	Colon
27	chr1:239646800-239647600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:239647000-239665200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:239647600-239648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:239647800-239657000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:239647800-239657200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:239648200-239656000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:239655600-239656200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:239656000-239656200	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:239656000-239658200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:239656200-239658000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:239657000-239657800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:239657200-239657800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr1:239657400-239675200	Weak transcription	Ovary	ovary
40	chr1:239657800-239658000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:239657800-239660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:239658000-239658200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:239658000-239659000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr1:239658200-239660800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:239658200-239662200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:239659000-239662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:239660600-239661400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:239660800-239664400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:239661400-239662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:239662200-239663200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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