Variant report

Variant	esv2763277
Chromosome Location	chr3:70065528-70074892
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	chr3:70073016..70075432-chr3:70076119..70079002,2	K562	blood:
2	chr3:70048629..70050138-chr3:70069759..70071566,2	K562	blood:

Variant related genes	Relation type
ENSG00000240405	chromatin interactions

Extended variants
information (count: 445 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142739653	chr3:70065549-70065550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531890145	chr3:70065559-70065560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542225414	chr3:70065584-70065585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562101546	chr3:70065599-70065600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527550619	chr3:70065603-70065604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547375860	chr3:70065656-70065657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371370783	chr3:70065658-70065659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376024790	chr3:70065690-70065691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532970962	chr3:70065743-70065744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9713916	chr3:70065765-70065766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569388813	chr3:70065819-70065820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535206208	chr3:70065831-70065832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554907230	chr3:70065854-70065855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370857930	chr3:70065865-70065866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565358175	chr3:70065881-70065882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534458856	chr3:70065884-70065885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567424471	chr3:70065895-70065896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374773880	chr3:70065983-70065984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367980182	chr3:70065990-70065991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183324486	chr3:70066014-70066015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5956402	chr3:70066019-70066020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546079099	chr3:70066031-70066032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530393140	chr3:70066038-70066039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556826301	chr3:70066053-70066054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371851888	chr3:70066055-70066056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542360716	chr3:70066056-70066057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562013043	chr3:70066096-70066097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375057385	chr3:70066170-70066171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367638029	chr3:70066196-70066197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564219585	chr3:70066208-70066209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533283806	chr3:70066213-70066214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549548704	chr3:70066232-70066233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372373943	chr3:70066236-70066237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569530695	chr3:70066270-70066271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112768033	chr3:70066275-70066276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375394965	chr3:70066283-70066284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548671508	chr3:70066284-70066285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187146723	chr3:70066307-70066308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369559042	chr3:70066313-70066314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534315306	chr3:70066370-70066371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150918432	chr3:70066397-70066398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529730529	chr3:70066405-70066406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191580674	chr3:70066416-70066417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540163090	chr3:70066421-70066422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556763035	chr3:70066430-70066431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576735325	chr3:70066431-70066432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535907300	chr3:70066466-70066467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555885760	chr3:70066545-70066546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9799060	chr3:70066581-70066582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541044009	chr3:70066609-70066610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70063200-70065800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:70063800-70098000	Weak transcription	Aorta	Aorta
3	chr3:70068000-70069600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:70069400-70071400	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:70069600-70071400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:70069600-70071400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:70069600-70071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:70069600-70071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:70069800-70071400	Enhancers	Primary B cells from cord blood	blood
10	chr3:70070000-70071000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:70071400-70072200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:70071400-70073000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:70071400-70073000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:70073000-70073200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:70073000-70073800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:70073000-70074200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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