Variant report

Variant	nsv1006716
Chromosome Location	chr1:209261652-209285782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 896 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541576812	chr1:209261741-209261742	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559673000	chr1:209261829-209261830	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532412132	chr1:209261862-209261863	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552409205	chr1:209261870-209261871	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552293036	chr1:209261883-209261884	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553668101	chr1:209261915-209261916	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570473359	chr1:209261933-209261934	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531285863	chr1:209261964-209261965	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550122205	chr1:209261985-209261986	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565834416	chr1:209261999-209262000	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192339762	chr1:209262036-209262037	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138526779	chr1:209262069-209262070	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534810275	chr1:209262071-209262072	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535371613	chr1:209262210-209262211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386638933	chr1:209262230-209262231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113703270	chr1:209262231-209262232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12121667	chr1:209262232-209262233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539962344	chr1:209262259-209262260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557787962	chr1:209262364-209262365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537484052	chr1:209262367-209262368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538265034	chr1:209262372-209262373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537016205	chr1:209262380-209262381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545611861	chr1:209262389-209262390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200393099	chr1:209262416-209262417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55704444	chr1:209262426-209262427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184676331	chr1:209262452-209262453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78904519	chr1:209262453-209262454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138835472	chr1:209262471-209262472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2039177	chr1:209262504-209262505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559938982	chr1:209262586-209262587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116804141	chr1:209262678-209262679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189509069	chr1:209262762-209262763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545919432	chr1:209262782-209262783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564143913	chr1:209262792-209262793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78018808	chr1:209262825-209262826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180810902	chr1:209262834-209262835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115744545	chr1:209262876-209262877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556624042	chr1:209262949-209262950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529233181	chr1:209263029-209263030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148291075	chr1:209263045-209263046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189720932	chr1:209263057-209263058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539197956	chr1:209263062-209263063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141415345	chr1:209263070-209263071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569776799	chr1:209263100-209263101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544115230	chr1:209263164-209263165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537130731	chr1:209263222-209263223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146319638	chr1:209263232-209263233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78494273	chr1:209263332-209263333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181357144	chr1:209263334-209263335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372168246	chr1:209263355-209263356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
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
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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209260400-209269000	Weak transcription	HSMM	muscle
2	chr1:209261600-209262200	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:209266000-209266400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:209266400-209271200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:209267400-209268200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:209267800-209270600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:209268000-209270000	Enhancers	Liver	Liver
8	chr1:209268200-209270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:209269000-209269200	Enhancers	A549	lung
10	chr1:209269000-209269400	Enhancers	Fetal Brain Male	brain
11	chr1:209269000-209270200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:209269000-209270200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:209269000-209270200	Enhancers	HMEC	breast
14	chr1:209269000-209270400	Enhancers	NHEK	skin
15	chr1:209269000-209270600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:209269000-209270600	Enhancers	HSMM	muscle
17	chr1:209269000-209271600	Enhancers	HSMMtube	muscle
18	chr1:209269200-209269600	Flanking Active TSS	A549	lung
19	chr1:209269200-209269800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:209269200-209269800	Enhancers	NHDF-Ad	bronchial
21	chr1:209269200-209270000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209269200-209270000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:209269200-209270000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:209269200-209270000	Enhancers	Hela-S3	cervix
25	chr1:209269200-209270000	Enhancers	Osteobl	bone
26	chr1:209269200-209270200	Enhancers	NH-A	brain
27	chr1:209269400-209270000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:209269400-209270000	Enhancers	GM12878-XiMat	blood
29	chr1:209269400-209273800	Weak transcription	Fetal Brain Male	brain
30	chr1:209269600-209270000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:209269600-209270000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:209269600-209270000	Enhancers	A549	lung
33	chr1:209270200-209279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:209270600-209279000	Weak transcription	HSMM	muscle
35	chr1:209271200-209272400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:209271600-209276200	Weak transcription	HSMMtube	muscle
37	chr1:209272000-209272200	Enhancers	Fetal Brain Female	brain
38	chr1:209272400-209275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:209273800-209281800	Enhancers	Fetal Brain Female	brain
40	chr1:209273800-209282200	Enhancers	Fetal Brain Male	brain
41	chr1:209274600-209274800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:209274600-209274800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:209274600-209277200	Enhancers	Brain Germinal Matrix	brain
44	chr1:209274800-209275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:209274800-209279200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:209275400-209275800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:209275400-209275800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:209275400-209276000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:209275400-209276400	Enhancers	GM12878-XiMat	blood
50	chr1:209275600-209276000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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