Variant report

Variant	esv2762335
Chromosome Location	chr3:70069112-70074892
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: 269 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9873906	chr3:70069112-70069113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9841257	chr3:70069150-70069151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182781442	chr3:70069170-70069171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6549263	chr3:70069179-70069180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141912483	chr3:70069196-70069197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75980880	chr3:70069209-70069210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569170550	chr3:70069220-70069221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531677367	chr3:70069225-70069226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116266587	chr3:70069242-70069243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139147499	chr3:70069244-70069245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373461749	chr3:70069258-70069259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547880810	chr3:70069282-70069283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533855396	chr3:70069318-70069319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570948568	chr3:70069322-70069323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188898389	chr3:70069344-70069345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553598625	chr3:70069362-70069363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193250872	chr3:70069378-70069379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149525137	chr3:70069432-70069433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369698237	chr3:70069446-70069447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146034320	chr3:70069447-70069448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530352905	chr3:70069455-70069456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575495284	chr3:70069488-70069489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571102188	chr3:70069499-70069500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555119450	chr3:70069513-70069514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574951483	chr3:70069519-70069520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540857612	chr3:70069540-70069541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74425481	chr3:70069544-70069545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377372499	chr3:70069556-70069557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369541345	chr3:70069572-70069573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546209054	chr3:70069588-70069589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184691431	chr3:70069607-70069608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12171315	chr3:70069611-70069612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548524213	chr3:70069618-70069619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371833191	chr3:70069620-70069621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13080062	chr3:70069621-70069622	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139988028	chr3:70069630-70069631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188915866	chr3:70069675-70069676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575394943	chr3:70069678-70069679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115586760	chr3:70069690-70069691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374710022	chr3:70069701-70069702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537724190	chr3:70069746-70069747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539158606	chr3:70069778-70069779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78050330	chr3:70069787-70069788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377360475	chr3:70069806-70069807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569334125	chr3:70069873-70069874	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538117520	chr3:70069875-70069876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554949713	chr3:70069876-70069877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575105771	chr3:70069896-70069897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191794984	chr3:70069906-70069907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17785152	chr3:70069907-70069908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:15 , 50 per page) page: 1

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

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