Variant report

Variant	nsv818744
Chromosome Location	chr1:196651832-196660261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196645088..196647729-chr1:196655612..196658233,2	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
3	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3766404	chr1:196651832-196651833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541805733	chr1:196651859-196651860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34727645	chr1:196651907-196651908	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181221145	chr1:196651961-196651962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545891227	chr1:196651986-196651987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564141830	chr1:196652029-196652030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35756883	chr1:196652065-196652066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556110227	chr1:196652084-196652085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567963832	chr1:196652107-196652108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33944729	chr1:196652124-196652125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397954133	chr1:196652126-196652127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148811271	chr1:196652214-196652215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551028816	chr1:196652239-196652240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117342218	chr1:196652241-196652242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539617703	chr1:196652243-196652244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35449482	chr1:196652280-196652281	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566589419	chr1:196652324-196652325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553542072	chr1:196652327-196652328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116665824	chr1:196652369-196652370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375664403	chr1:196652370-196652371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573011254	chr1:196652407-196652408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78585796	chr1:196652414-196652415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201107539	chr1:196652453-196652454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542092852	chr1:196652490-196652491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114469079	chr1:196652494-196652495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575630876	chr1:196652515-196652516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545986930	chr1:196652570-196652571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564280302	chr1:196652571-196652572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528138536	chr1:196652579-196652580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143449281	chr1:196652581-196652582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs33982697	chr1:196652622-196652623	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528911168	chr1:196652656-196652657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550574865	chr1:196652709-196652710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577533811	chr1:196652716-196652717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533457604	chr1:196652732-196652733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147991521	chr1:196652764-196652765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566772290	chr1:196652799-196652800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534291480	chr1:196652813-196652814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16840422	chr1:196652834-196652835	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567628452	chr1:196652835-196652836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142058409	chr1:196652837-196652838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186405952	chr1:196652874-196652875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556611896	chr1:196652880-196652881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575569341	chr1:196652884-196652885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539744470	chr1:196652911-196652912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544580854	chr1:196652984-196652985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563084416	chr1:196653010-196653011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557977938	chr1:196653011-196653012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569983351	chr1:196653050-196653051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533665689	chr1:196653077-196653078	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:80 , 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	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
7	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:196641400-196665800	Strong transcription	Liver	Liver
10	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:196642000-196652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
13	chr1:196646000-196678400	Weak transcription	K562	blood
14	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
15	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:196648200-196652400	Weak transcription	NHDF-Ad	bronchial
17	chr1:196648200-196654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:196648200-196654200	Weak transcription	Ovary	ovary
19	chr1:196648200-196661200	Weak transcription	NHLF	lung
20	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
21	chr1:196648200-196666600	Weak transcription	NH-A	brain
22	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:196649600-196707200	Weak transcription	Osteobl	bone
25	chr1:196650000-196654000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:196650000-196654800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:196650400-196653600	Weak transcription	Dnd41	blood
28	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:196651800-196653800	Weak transcription	HSMM	muscle
30	chr1:196652400-196653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:196653200-196654800	Weak transcription	Fetal Kidney	kidney
32	chr1:196653200-196656800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:196653600-196654000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:196653600-196660600	Strong transcription	Dnd41	blood
35	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:196653800-196656600	Strong transcription	HSMM	muscle
37	chr1:196653800-196669600	Weak transcription	Lung	lung
38	chr1:196654000-196655200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:196654200-196655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:196654200-196655400	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:196654200-196655600	Strong transcription	Ovary	ovary
42	chr1:196654600-196654800	Weak transcription	Left Ventricle	heart
43	chr1:196654800-196655000	ZNF genes & repeats	Esophagus	oesophagus
44	chr1:196654800-196655000	Enhancers	Left Ventricle	heart
45	chr1:196654800-196655200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:196654800-196655400	Strong transcription	Fetal Kidney	kidney
47	chr1:196654800-196655600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
49	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
50	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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