Variant report

Variant	nsv548748
Chromosome Location	chr1:196692668-196696282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
2	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:
3	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35566405	chr1:196692668-196692669	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs381974	chr1:196692672-196692673	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543298225	chr1:196692680-196692681	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34699290	chr1:196692738-196692739	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562617988	chr1:196692755-196692756	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573985135	chr1:196692828-196692829	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561434115	chr1:196692908-196692909	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145928464	chr1:196692909-196692910	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550155206	chr1:196692926-196692927	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35908703	chr1:196692940-196692941	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532503798	chr1:196692981-196692982	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544696956	chr1:196692993-196692994	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369491268	chr1:196693020-196693021	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112498817	chr1:196693041-196693042	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148254589	chr1:196693053-196693054	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35717509	chr1:196693057-196693058	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560067784	chr1:196693062-196693063	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35582046	chr1:196693075-196693076	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549217246	chr1:196693088-196693089	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35612319	chr1:196693098-196693099	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35828462	chr1:196693108-196693109	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190478440	chr1:196693116-196693117	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12096637	chr1:196693124-196693125	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577785711	chr1:196693134-196693135	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs36014159	chr1:196693159-196693160	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192985110	chr1:196693170-196693171	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377694948	chr1:196693172-196693173	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572030896	chr1:196693234-196693235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185273447	chr1:196693242-196693243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561623316	chr1:196693259-196693260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188810300	chr1:196693338-196693339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543980018	chr1:196693346-196693347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567215903	chr1:196693378-196693379	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565302221	chr1:196693394-196693395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532587908	chr1:196693398-196693399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565221212	chr1:196693429-196693430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531448814	chr1:196693432-196693433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181327380	chr1:196693442-196693443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs379489	chr1:196693451-196693452	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs530026279	chr1:196693467-196693468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548336865	chr1:196693540-196693541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34853939	chr1:196693565-196693566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78953857	chr1:196693571-196693572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184048677	chr1:196693576-196693577	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569018857	chr1:196693602-196693603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373548994	chr1:196693626-196693627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571422112	chr1:196693639-196693640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538847753	chr1:196693695-196693696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188294249	chr1:196693705-196693706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180696577	chr1:196693706-196693707	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:196649600-196707200	Weak transcription	Osteobl	bone
3	chr1:196671400-196695600	Weak transcription	HSMM	muscle
4	chr1:196674000-196706600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:196676000-196700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:196676800-196692800	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
8	chr1:196685600-196706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:196685800-196697400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:196687000-196693000	Weak transcription	Gastric	stomach
11	chr1:196688200-196693800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:196689400-196697800	Strong transcription	Liver	Liver
13	chr1:196690800-196701800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:196690800-196707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:196691200-196718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:196692400-196693600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:196692600-196692800	Enhancers	Right Ventricle	heart
18	chr1:196692600-196693200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:196692600-196693600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:196692600-196693600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:196692600-196693600	Strong transcription	Dnd41	blood
22	chr1:196692600-196693800	Strong transcription	Ovary	ovary
23	chr1:196692800-196693000	ZNF genes & repeats	Lung	lung
24	chr1:196692800-196693800	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:196692800-196697400	Weak transcription	Right Ventricle	heart
26	chr1:196693000-196693200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:196693000-196693200	ZNF genes & repeats	Gastric	stomach
28	chr1:196693000-196707800	Weak transcription	Lung	lung
29	chr1:196693200-196698800	Weak transcription	Gastric	stomach
30	chr1:196693200-196707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:196693600-196700200	Weak transcription	Dnd41	blood
32	chr1:196693600-196706000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:196693600-196707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:196693600-196707000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:196693800-196695800	Weak transcription	Ovary	ovary
36	chr1:196693800-196701800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:196694400-196706600	Weak transcription	Psoas Muscle	Psoas
38	chr1:196695600-196698400	Strong transcription	HSMM	muscle
39	chr1:196695600-196707600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:196695800-196697600	Strong transcription	Ovary	ovary

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