Variant report

Variant	esv3343230
Chromosome Location	chr1:180624779-180626827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180616735..180618817-chr1:180623698..180626085,2	MCF-7	breast:
2	chr1:180554937..180556534-chr1:180622491..180625409,2	K562	blood:
3	chr1:180613241..180615930-chr1:180622558..180625291,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD6-6	chr1:180625504-180625705	expReg_chr1_18270_-

Extended variants
information (count: 98 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2877438	chr1:180624835-180624836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs59659013	chr1:180624848-180624849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546937352	chr1:180624873-180624874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61038985	chr1:180624906-180624907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144932239	chr1:180624929-180624930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184510128	chr1:180624938-180624939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138656075	chr1:180624945-180624946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371830871	chr1:180624988-180624989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555540018	chr1:180625003-180625004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573799111	chr1:180625027-180625028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541320361	chr1:180625031-180625032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79064171	chr1:180625083-180625084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74765763	chr1:180625084-180625085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190540015	chr1:180625124-180625125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578055512	chr1:180625133-180625134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182312864	chr1:180625176-180625177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545439792	chr1:180625189-180625190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140309590	chr1:180625224-180625225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186062240	chr1:180625332-180625333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139540352	chr1:180625367-180625368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189344877	chr1:180625372-180625373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375898074	chr1:180625393-180625394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115144889	chr1:180625452-180625453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537457720	chr1:180625470-180625471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568565933	chr1:180625484-180625485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537019429	chr1:180625486-180625487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113863323	chr1:180625489-180625490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557305445	chr1:180625492-180625493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181248088	chr1:180625499-180625500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565268223	chr1:180625500-180625501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570782368	chr1:180625512-180625513	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs12076345	chr1:180625527-180625528	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373585823	chr1:180625535-180625536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs185308417	chr1:180625541-180625542	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs190514143	chr1:180625542-180625543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs183058113	chr1:180625545-180625546	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539740119	chr1:180625557-180625558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs376384027	chr1:180625570-180625571	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs369036145	chr1:180625579-180625580	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs71121042	chr1:180625580-180625581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs74195443	chr1:180625581-180625582	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs186934485	chr1:180625590-180625591	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs372561235	chr1:180625592-180625593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551374583	chr1:180625593-180625594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs113313627	chr1:180625597-180625598	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs376908605	chr1:180625605-180625606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370510468	chr1:180625610-180625611	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs2877483	chr1:180625611-180625612	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs374570625	chr1:180625619-180625620	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs376829958	chr1:180625625-180625626	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Autism	21865298	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
3	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
8	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:180616200-180624800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:180616400-180627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180616600-180626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:180619600-180632600	Weak transcription	Pancreas	Pancrea
14	chr1:180619600-180634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:180622400-180626400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:180624600-180625000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:180625800-180634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:180626000-180627000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr1:180626200-180627600	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr1:180626400-180626800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:180626400-180626800	ZNF genes & repeats	Fetal Lung	lung
22	chr1:180626400-180627600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr1:180626400-180627800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr1:180626600-180626800	ZNF genes & repeats	Fetal Brain Male	brain
25	chr1:180626600-180626800	ZNF genes & repeats	Fetal Heart	heart

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