Variant report

Variant	nsv947215
Chromosome Location	chr1:196661520-196683517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1042 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12124794	chr1:196661538-196661539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369472380	chr1:196661551-196661552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565718418	chr1:196661582-196661583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536930134	chr1:196661585-196661586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532356085	chr1:196661601-196661602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12405238	chr1:196661613-196661614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537603095	chr1:196661620-196661621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144783486	chr1:196661624-196661625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72399259	chr1:196661641-196661642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112339430	chr1:196661657-196661658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113912245	chr1:196661658-196661659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71524418	chr1:196661662-196661663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71131718	chr1:196661669-196661670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577267074	chr1:196661673-196661674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148903140	chr1:196661676-196661677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144705233	chr1:196661679-196661680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151137602	chr1:196661691-196661692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201241999	chr1:196661701-196661702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199542120	chr1:196661703-196661704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541210026	chr1:196661712-196661713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140142103	chr1:196661730-196661731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72162763	chr1:196661731-196661732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57498815	chr1:196661733-196661734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563419414	chr1:196661752-196661753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553318933	chr1:196661783-196661784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528250032	chr1:196661791-196661792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200357823	chr1:196661808-196661809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201463559	chr1:196661835-196661836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145421039	chr1:196661839-196661840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199736267	chr1:196661840-196661841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60621502	chr1:196661842-196661843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201846258	chr1:196661846-196661847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71131719	chr1:196661855-196661856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199614422	chr1:196661856-196661857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530760640	chr1:196661876-196661877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374281750	chr1:196661877-196661878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541840797	chr1:196661878-196661879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567888096	chr1:196661923-196661924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59864226	chr1:196661928-196661929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61370237	chr1:196661937-196661938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55971078	chr1:196661947-196661948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55886107	chr1:196661951-196661952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72734322	chr1:196661952-196661953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55664852	chr1:196661953-196661954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55665147	chr1:196661960-196661961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56236190	chr1:196661963-196661964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56040373	chr1:196661967-196661968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56163630	chr1:196661975-196661976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56104794	chr1:196661998-196661999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55899920	chr1:196662002-196662003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:196641400-196665800	Strong transcription	Liver	Liver
7	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
8	chr1:196646000-196678400	Weak transcription	K562	blood
9	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
10	chr1:196648200-196666600	Weak transcription	NH-A	brain
11	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:196649600-196707200	Weak transcription	Osteobl	bone
14	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:196653800-196669600	Weak transcription	Lung	lung
17	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
18	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:196656400-196664200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:196659600-196670400	Weak transcription	HSMM	muscle
21	chr1:196660000-196662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:196660200-196662400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:196660200-196662600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:196660200-196662600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:196660200-196662600	Weak transcription	Ovary	ovary
27	chr1:196660200-196669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:196660400-196667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:196660600-196662600	Weak transcription	Dnd41	blood
30	chr1:196662400-196663600	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr1:196662600-196663000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr1:196662600-196663400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr1:196662600-196663600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:196662600-196663800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:196662600-196665600	Strong transcription	Dnd41	blood
36	chr1:196662600-196665800	Strong transcription	Ovary	ovary
37	chr1:196663000-196665200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:196663600-196665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:196663800-196669200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:196665200-196665600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr1:196665200-196665800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:196665200-196665800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:196665400-196665600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr1:196665600-196668800	Weak transcription	Dnd41	blood
45	chr1:196665600-196669200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:196665600-196669200	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:196665800-196667400	Weak transcription	Liver	Liver
48	chr1:196665800-196668200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:196665800-196669200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:196665800-196669200	Weak transcription	Ovary	ovary

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