Variant report

Variant	esv2762339
Chromosome Location	chr3:87887946-87897083
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	chr3:87890331..87892526-chr3:87894375..87897348,2	K562	blood:
2	chr3:87890331..87892526-chr3:87894375..87897348,2	K562	blood:

Extended variants
information (count: 343 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573527949	chr3:87887965-87887966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150595286	chr3:87888134-87888135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559241714	chr3:87888149-87888150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35528055	chr3:87888158-87888159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2919244	chr3:87888161-87888162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2932304	chr3:87888162-87888163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201601597	chr3:87888173-87888174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200162593	chr3:87888174-87888175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200902095	chr3:87888177-87888178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs994130	chr3:87888178-87888179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76529078	chr3:87888180-87888181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547996081	chr3:87888207-87888208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73145264	chr3:87888262-87888263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552183647	chr3:87888271-87888272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79752576	chr3:87888319-87888320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76955352	chr3:87888327-87888328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531389378	chr3:87888355-87888356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192042604	chr3:87888400-87888401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139611817	chr3:87888411-87888412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536745096	chr3:87888495-87888496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548560915	chr3:87888513-87888514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184491975	chr3:87888534-87888535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188354192	chr3:87888539-87888540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558973574	chr3:87888565-87888566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571141791	chr3:87888586-87888587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143416647	chr3:87888619-87888620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556342439	chr3:87888638-87888639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574155783	chr3:87888644-87888645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541516628	chr3:87888654-87888655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75017486	chr3:87888722-87888723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571923868	chr3:87888739-87888740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199634073	chr3:87888758-87888759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113966789	chr3:87888815-87888816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184172951	chr3:87888827-87888828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370878636	chr3:87888843-87888844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531655587	chr3:87888918-87888919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9839363	chr3:87888936-87888937	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2919242	chr3:87889026-87889027	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535451863	chr3:87889030-87889031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116327109	chr3:87889092-87889093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189551694	chr3:87889145-87889146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180991931	chr3:87889159-87889160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115805977	chr3:87889163-87889164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527653616	chr3:87889182-87889183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552565643	chr3:87889227-87889228	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571013261	chr3:87889232-87889233	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs114582180	chr3:87889235-87889236	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556480908	chr3:87889256-87889257	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs187336555	chr3:87889304-87889305	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs2654567	chr3:87889310-87889311	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87867800-87912800	Weak transcription	K562	blood
2	chr3:87882200-87907600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:87885400-87888400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:87886800-87888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:87887400-87888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:87888400-87889200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr3:87888400-87889600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:87888400-87889800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:87889200-87889400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr3:87889400-87896800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:87889600-87891600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:87889800-87892000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:87891600-87892400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:87892000-87892400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:87892400-87896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:87896800-87897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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