Variant report

Variant	esv3492945
Chromosome Location	chr1:180749543-180756750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:
2	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
3	chr1:180755697..180757513-chr1:180767236..180769336,2	K562	blood:
4	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
5	chr1:180756175..180757735-chr1:180760833..180762619,2	K562	blood:
6	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
7	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:

No data

Extended variants
information (count: 242 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562390138	chr1:180749576-180749577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529746708	chr1:180749581-180749582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547889726	chr1:180749629-180749630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559878223	chr1:180749645-180749646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527502540	chr1:180749678-180749679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551979960	chr1:180749699-180749700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184415962	chr1:180749734-180749735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537799899	chr1:180749767-180749768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550103288	chr1:180749796-180749797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568374579	chr1:180749820-180749821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533033591	chr1:180749821-180749822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147115431	chr1:180749850-180749851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554330109	chr1:180749858-180749859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138258124	chr1:180749862-180749863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369375872	chr1:180749876-180749877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540024287	chr1:180749894-180749895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558431101	chr1:180749913-180749914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576670534	chr1:180749943-180749944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189649896	chr1:180749983-180749984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562464597	chr1:180750020-180750021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574365302	chr1:180750069-180750070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541494243	chr1:180750139-180750140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559792541	chr1:180750148-180750149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181096294	chr1:180750186-180750187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527417849	chr1:180750189-180750190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185880804	chr1:180750287-180750288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368447416	chr1:180750323-180750324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10914105	chr1:180750335-180750336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188792692	chr1:180750390-180750391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531594966	chr1:180750451-180750452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549825752	chr1:180750504-180750505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34710814	chr1:180750568-180750569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10914106	chr1:180750573-180750574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181539441	chr1:180750631-180750632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567141334	chr1:180750729-180750730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566169303	chr1:180750745-180750746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545300898	chr1:180750795-180750796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186452704	chr1:180750803-180750804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115653369	chr1:180750804-180750805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537714990	chr1:180750821-180750822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10798792	chr1:180750830-180750831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574300609	chr1:180750846-180750847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541408302	chr1:180750852-180750853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144355997	chr1:180750874-180750875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192191698	chr1:180750986-180750987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4652530	chr1:180750997-180750998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549319452	chr1:180751005-180751006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61811196	chr1:180751124-180751125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543630475	chr1:180751193-180751194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561819903	chr1:180751214-180751215	Enhancers Weak 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
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
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
3	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
5	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
6	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
7	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:180743400-180763000	Weak transcription	HSMM	muscle
12	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:180744400-180751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180746600-180751400	Weak transcription	Fetal Brain Male	brain
15	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
17	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:180749000-180749600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:180749000-180749600	Enhancers	Fetal Heart	heart
20	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:180751000-180751200	Enhancers	Fetal Brain Female	brain
23	chr1:180751000-180751400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:180751000-180751600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:180751000-180751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:180751000-180753000	Enhancers	Left Ventricle	heart
27	chr1:180751200-180751600	Weak transcription	Fetal Brain Female	brain
28	chr1:180751200-180752400	Enhancers	Brain Anterior Caudate	brain
29	chr1:180751400-180751800	Enhancers	Brain Angular Gyrus	brain
30	chr1:180751400-180751800	Enhancers	Brain Substantia Nigra	brain
31	chr1:180751400-180751800	Enhancers	Fetal Brain Male	brain
32	chr1:180751400-180774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:180751600-180751800	Enhancers	Fetal Brain Female	brain
34	chr1:180751800-180752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:180751800-180754000	Weak transcription	Fetal Brain Male	brain
36	chr1:180751800-180755000	Weak transcription	Fetal Brain Female	brain
37	chr1:180752800-180753200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:180753000-180753200	Enhancers	Small Intestine	intestine
39	chr1:180753000-180756600	Weak transcription	Left Ventricle	heart
40	chr1:180753200-180754000	Weak transcription	Small Intestine	intestine
41	chr1:180753200-180754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:180754000-180754800	Enhancers	A549	lung
43	chr1:180754000-180755000	Enhancers	Osteobl	bone
44	chr1:180754000-180756800	Enhancers	Fetal Brain Male	brain
45	chr1:180754200-180754400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:180754200-180754400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:180754200-180754600	Enhancers	Pancreas	Pancrea
48	chr1:180754200-180754600	Enhancers	Stomach Mucosa	stomach
49	chr1:180754200-180754600	Enhancers	NHLF	lung
50	chr1:180754200-180754800	Enhancers	Muscle Satellite Cultured Cells	--

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