Variant report

Variant	nsv549198
Chromosome Location	chr1:216214461-216225248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 434 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17025909	chr1:216214461-216214462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56807851	chr1:216214469-216214470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367726081	chr1:216214490-216214491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564578114	chr1:216214576-216214577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533452451	chr1:216214598-216214599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550242818	chr1:216214620-216214621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78620900	chr1:216214622-216214623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145542502	chr1:216214624-216214625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189170616	chr1:216214664-216214665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557575180	chr1:216214678-216214679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73094513	chr1:216214690-216214691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200732506	chr1:216214730-216214731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544202454	chr1:216214745-216214746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181260377	chr1:216214780-216214781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557890271	chr1:216214792-216214793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546005162	chr1:216214804-216214805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374110279	chr1:216214846-216214847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185553545	chr1:216214849-216214850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188700695	chr1:216214855-216214856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562533326	chr1:216214869-216214870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541428134	chr1:216214881-216214882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562040012	chr1:216214943-216214944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368056409	chr1:216214952-216214953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7340049	chr1:216214996-216214997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533129383	chr1:216215052-216215053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533064454	chr1:216215089-216215090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564254012	chr1:216215093-216215094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573162260	chr1:216215097-216215098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72744692	chr1:216215116-216215117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550291080	chr1:216215122-216215123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146933027	chr1:216215187-216215188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377285296	chr1:216215188-216215189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368311770	chr1:216215190-216215191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563592681	chr1:216215202-216215203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61263325	chr1:216215271-216215272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529927803	chr1:216215308-216215309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549079897	chr1:216215311-216215312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180767617	chr1:216215431-216215432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534970091	chr1:216215437-216215438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551586722	chr1:216215449-216215450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571503777	chr1:216215454-216215455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539187506	chr1:216215505-216215506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12145512	chr1:216215518-216215519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375359993	chr1:216215590-216215591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569601446	chr1:216215670-216215671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535451553	chr1:216215705-216215706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11120726	chr1:216215741-216215742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567898724	chr1:216215752-216215753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545330297	chr1:216215762-216215763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144292486	chr1:216215858-216215859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216212200-216216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216216800-216218800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216217000-216217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:216217400-216218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:216217400-216221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:216218000-216220000	Enhancers	HSMM	muscle
7	chr1:216218200-216219200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:216218200-216219400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:216218200-216219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:216218200-216219400	Enhancers	HMEC	breast
11	chr1:216218200-216219400	Enhancers	NHEK	skin
12	chr1:216218200-216219600	Enhancers	NH-A	brain
13	chr1:216218200-216221400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:216218200-216222000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:216218400-216219200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:216218400-216219800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:216218400-216220200	Enhancers	NHDF-Ad	bronchial
18	chr1:216218600-216220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:216218800-216219400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:216218800-216219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:216218800-216219600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:216219000-216219400	Enhancers	HSMMtube	muscle
23	chr1:216219000-216220000	Enhancers	NHLF	lung
24	chr1:216219200-216219400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr1:216219200-216221800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:216219600-216220000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:216219600-216221000	Weak transcription	NH-A	brain
28	chr1:216219800-216221000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:216220000-216220400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:216220200-216220600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:216220200-216221200	Enhancers	Brain Germinal Matrix	brain
32	chr1:216220400-216222000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:216220600-216221400	Enhancers	Fetal Brain Female	brain
34	chr1:216220600-216221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:216220800-216222200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:216220800-216222200	Enhancers	Fetal Brain Male	brain
37	chr1:216221000-216221800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:216221200-216221400	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr1:216221200-216221400	Enhancers	HSMMtube	muscle
40	chr1:216221200-216221800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:216221200-216222000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:216221200-216222000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:216221400-216221600	Enhancers	Brain Germinal Matrix	brain
44	chr1:216221400-216221600	Enhancers	NH-A	brain
45	chr1:216221600-216221800	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr1:216221800-216223200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:216221800-216223200	Enhancers	Brain Germinal Matrix	brain
48	chr1:216221800-216227200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:216222000-216222400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:216222000-216222600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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