Variant report

Variant	esv3347520
Chromosome Location	chr1:180667679-180672477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
2	chr1:180671018..180672808-chr1:180721047..180723320,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373484434	chr1:180667691-180667692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566161726	chr1:180667763-180667764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531850076	chr1:180667807-180667808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371904946	chr1:180667837-180667838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74803067	chr1:180667867-180667868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75764107	chr1:180667869-180667870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554532954	chr1:180667878-180667879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148880390	chr1:180667889-180667890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558037843	chr1:180667944-180667945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576371990	chr1:180667970-180667971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537446400	chr1:180668008-180668009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555916986	chr1:180668022-180668023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574460753	chr1:180668027-180668028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191563004	chr1:180668049-180668050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560267302	chr1:180668077-180668078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138874968	chr1:180668080-180668081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201979709	chr1:180668081-180668082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572274508	chr1:180668101-180668102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546389730	chr1:180668121-180668122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182832235	chr1:180668122-180668123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531664339	chr1:180668159-180668160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550133642	chr1:180668176-180668177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs114559626	chr1:180668201-180668202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187052923	chr1:180668252-180668253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547574895	chr1:180668282-180668283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372689140	chr1:180668333-180668334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376031707	chr1:180668338-180668339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370095146	chr1:180668341-180668342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76829082	chr1:180668345-180668346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75039676	chr1:180668346-180668347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566221774	chr1:180668349-180668350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79483161	chr1:180668350-180668351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs397797728	chr1:180668362-180668363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375631910	chr1:180668460-180668461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112892186	chr1:180668473-180668474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373330505	chr1:180668474-180668475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551607330	chr1:180668492-180668493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569070930	chr1:180668518-180668519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569994415	chr1:180668521-180668522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539791572	chr1:180668525-180668526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201121919	chr1:180669018-180669019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1170293	chr1:180669024-180669025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1183955	chr1:180669069-180669070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1170294	chr1:180669117-180669118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1177638	chr1:180669126-180669127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1170295	chr1:180669178-180669179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201711661	chr1:180669507-180669508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200004980	chr1:180670296-180670297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556093446	chr1:180670665-180670666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201097459	chr1:180670701-180670702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	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
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180666800-180668400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:180667200-180668200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr1:180667400-180668000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:180667800-180668000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:180667800-180668400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr1:180668200-180669200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:180668400-180671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:180671600-180671800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:180671600-180672400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:180671600-180678400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:180672000-180672200	Weak transcription	Left Ventricle	heart
15	chr1:180672000-180672600	ZNF genes & repeats	A549	lung
16	chr1:180672000-180672800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:180672000-180672800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr1:180672000-180672800	ZNF genes & repeats	K562	blood
19	chr1:180672200-180672400	Enhancers	Gastric	stomach
20	chr1:180672200-180672400	Enhancers	Left Ventricle	heart
21	chr1:180672200-180672600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:180672200-180672800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr1:180672200-180672800	ZNF genes & repeats	Lung	lung
24	chr1:180672200-180672800	Enhancers	Pancreas	Pancrea
25	chr1:180672200-180672800	Enhancers	Right Ventricle	heart
26	chr1:180672200-180673000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr1:180672400-180672800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:180672400-180672800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr1:180672400-180672800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr1:180672400-180690000	Weak transcription	Left Ventricle	heart

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