Variant report

Variant	nsv818157
Chromosome Location	chr3:88001713-88003812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17025198	chr3:88001713-88001714	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573361925	chr3:88001745-88001746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187499243	chr3:88001746-88001747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140271473	chr3:88001751-88001752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192737949	chr3:88001809-88001810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184739533	chr3:88001815-88001816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563056503	chr3:88001875-88001876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556165768	chr3:88001903-88001904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147012818	chr3:88001998-88001999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189642862	chr3:88002040-88002041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192126700	chr3:88002041-88002042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184667406	chr3:88002051-88002052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79140874	chr3:88002056-88002057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56064296	chr3:88002066-88002067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564067522	chr3:88002095-88002096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13326965	chr3:88002098-88002099	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550019414	chr3:88002131-88002132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150227338	chr3:88002161-88002162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575076920	chr3:88002163-88002164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529235651	chr3:88002178-88002179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547607060	chr3:88002265-88002266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188593015	chr3:88002326-88002327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550568241	chr3:88002331-88002332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534254879	chr3:88002386-88002387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113189456	chr3:88002473-88002474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570791748	chr3:88002500-88002501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56215264	chr3:88002503-88002504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568476197	chr3:88002504-88002505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201591264	chr3:88002512-88002513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181176731	chr3:88002544-88002545	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7635463	chr3:88002600-88002601	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186619086	chr3:88002607-88002608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372984915	chr3:88002677-88002678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143677828	chr3:88002679-88002680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143041738	chr3:88002790-88002791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553900137	chr3:88002810-88002811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572313502	chr3:88002876-88002877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79856784	chr3:88002877-88002878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545847256	chr3:88002889-88002890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147455956	chr3:88002895-88002896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531461383	chr3:88002900-88002901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138246194	chr3:88002917-88002918	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149642628	chr3:88002933-88002934	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531530997	chr3:88002958-88002959	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144371658	chr3:88002987-88002988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561160733	chr3:88003034-88003035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112748490	chr3:88003053-88003054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189006185	chr3:88003071-88003072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62267057	chr3:88003161-88003162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527488779	chr3:88003170-88003171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87995000-88002400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:87995600-88011000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:88000000-88005000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:88002400-88003000	Strong transcription	Primary hematopoietic stem cells	blood
5	chr3:88003000-88006200	Weak transcription	Primary hematopoietic stem cells	blood

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