Variant report

Variant	esv3521458
Chromosome Location	chr3:83387311-83425363
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	chr3:83367096..83369099-chr3:83414671..83417378,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116385420	chr3:83400245-83400246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192821275	chr3:83400253-83400254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77138747	chr3:83400265-83400266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79473824	chr3:83400324-83400325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537289974	chr3:83400433-83400434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9867218	chr3:83400485-83400486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373883458	chr3:83400492-83400493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570385455	chr3:83400512-83400513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559095821	chr3:83400519-83400520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572654056	chr3:83400531-83400532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74992397	chr3:83400564-83400565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552711560	chr3:83400598-83400599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559748319	chr3:83400662-83400663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371866351	chr3:83400664-83400665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536572781	chr3:83400666-83400667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528571370	chr3:83400674-83400675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143968480	chr3:83400723-83400724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148190216	chr3:83400725-83400726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184936779	chr3:83400792-83400793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375739668	chr3:83400793-83400794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370039366	chr3:83400798-83400799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185683570	chr3:83406895-83406896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559071746	chr3:83406975-83406976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs137885618	chr3:83407014-83407015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563822342	chr3:83407041-83407042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143434060	chr3:83407150-83407151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540424310	chr3:83424402-83424403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528834032	chr3:83424426-83424427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553870554	chr3:83424441-83424442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373148076	chr3:83424473-83424474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192772655	chr3:83424491-83424492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542636136	chr3:83424498-83424499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370951776	chr3:83424507-83424508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541374575	chr3:83424530-83424531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562318411	chr3:83424570-83424571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558116656	chr3:83424616-83424617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531126470	chr3:83424730-83424731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544465396	chr3:83424769-83424770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75865277	chr3:83424772-83424773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17779488	chr3:83424778-83424779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546871469	chr3:83424822-83424823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71328442	chr3:83424877-83424878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566981186	chr3:83424900-83424901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74993242	chr3:83424922-83424923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529338789	chr3:83424992-83424993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113581685	chr3:83425002-83425003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543894402	chr3:83425022-83425023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs700013	chr3:83425054-83425055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569234234	chr3:83425134-83425135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538141018	chr3:83425229-83425230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83400200-83400800	Enhancers	Dnd41	blood
2	chr3:83406800-83407200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:83424400-83424800	Enhancers	Dnd41	blood
4	chr3:83424800-83425800	Weak transcription	Dnd41	blood

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