Variant report

Variant	nsv877072
Chromosome Location	chr3:83877684-83928479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:83903378..83905184-chr3:83905996..83908486,2	K562	blood:
2	chr3:83903378..83905184-chr3:83905996..83908486,2	K562	blood:
3	chr3:83920554..83921386-chr9:37438906..37439461,2	MCF-7	breast:

Extended variants
information (count: 1106 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77128725	chr3:83881208-83881209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13059952	chr3:83881213-83881214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573589757	chr3:83881223-83881224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549798442	chr3:83881282-83881283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374352143	chr3:83881478-83881479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554500623	chr3:83881544-83881545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190437743	chr3:83881555-83881556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571286255	chr3:83881566-83881567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538569751	chr3:83881590-83881591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540313089	chr3:83881605-83881606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578145561	chr3:83881641-83881642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565356421	chr3:83881644-83881645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577300516	chr3:83881689-83881690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182192176	chr3:83881740-83881741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72910799	chr3:83881743-83881744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559511665	chr3:83881748-83881749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530370303	chr3:83881764-83881765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111450017	chr3:83881767-83881768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79452954	chr3:83881836-83881837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560668792	chr3:83881847-83881848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528069242	chr3:83881850-83881851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375330064	chr3:83881855-83881856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185259576	chr3:83881870-83881871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538378448	chr3:83881928-83881929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541652569	chr3:83881952-83881953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62258020	chr3:83881955-83881956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115354827	chr3:83882017-83882018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76814868	chr3:83882023-83882024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554437554	chr3:83882062-83882063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566679627	chr3:83882136-83882137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534179548	chr3:83882139-83882140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558694851	chr3:83882153-83882154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34441205	chr3:83882169-83882170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146965952	chr3:83882198-83882199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544720536	chr3:83882207-83882208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556754714	chr3:83882209-83882210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374019151	chr3:83882251-83882252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188405545	chr3:83882306-83882307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542471067	chr3:83882320-83882321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147556234	chr3:83882337-83882338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576237079	chr3:83882350-83882351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540199590	chr3:83882362-83882363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564732626	chr3:83882376-83882377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563995690	chr3:83882439-83882440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6548910	chr3:83882465-83882466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550249775	chr3:83882469-83882470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568655130	chr3:83882519-83882520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149044970	chr3:83882533-83882534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79794881	chr3:83882575-83882576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73128049	chr3:83882640-83882641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83881200-83883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:83883400-83883800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:83883800-83897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:83884400-83885000	Active TSS	Gastric	stomach
5	chr3:83892800-83893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:83898400-83899000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:83898600-83900000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:83900000-83900800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:83900800-83902400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:83917800-83918200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:83918200-83918600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:83922400-83923400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:83923400-83927000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:83926200-83927400	Enhancers	Fetal Muscle Leg	muscle
15	chr3:83927000-83927400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:83927400-83931400	Weak transcription	Muscle Satellite Cultured Cells	--

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