Variant report

Variant	esv3496522
Chromosome Location	chr3:85950326-85954343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73147168	chr3:85950384-85950385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148309030	chr3:85950405-85950406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552677352	chr3:85950411-85950412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28514755	chr3:85950432-85950433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192148006	chr3:85950440-85950441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556706787	chr3:85950474-85950475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184023694	chr3:85950478-85950479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536171030	chr3:85950524-85950525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554441730	chr3:85950526-85950527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545119681	chr3:85950550-85950551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375720692	chr3:85950611-85950612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560700589	chr3:85950633-85950634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188506639	chr3:85950646-85950647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577405476	chr3:85950650-85950651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374858855	chr3:85950660-85950661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368870617	chr3:85950713-85950714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576835831	chr3:85950761-85950762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544805357	chr3:85950767-85950768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563109129	chr3:85950797-85950798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530294665	chr3:85950811-85950812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542589963	chr3:85950821-85950822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6762778	chr3:85950923-85950924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527692328	chr3:85950926-85950927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552238779	chr3:85950963-85950964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562691122	chr3:85950964-85950965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531739571	chr3:85951004-85951005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531750487	chr3:85951005-85951006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150560680	chr3:85951050-85951051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565698354	chr3:85951081-85951082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549843656	chr3:85951084-85951085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568760018	chr3:85951094-85951095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150489722	chr3:85951096-85951097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548089440	chr3:85951124-85951125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377257757	chr3:85951181-85951182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181709588	chr3:85951209-85951210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185775517	chr3:85951234-85951235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190518717	chr3:85951267-85951268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138521401	chr3:85951277-85951278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369436590	chr3:85951288-85951289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144018804	chr3:85951315-85951316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527608791	chr3:85951333-85951334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556289741	chr3:85951335-85951336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575125254	chr3:85951338-85951339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547181665	chr3:85951341-85951342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542399432	chr3:85951344-85951345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570361413	chr3:85951376-85951377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560840733	chr3:85951381-85951382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182442747	chr3:85951471-85951472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35763668	chr3:85951523-85951524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546463558	chr3:85951545-85951546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	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
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85946800-85952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:85952200-85953400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:85952400-85953400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:85952400-85964400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:85952600-85953000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:85952600-85953200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:85952600-85953200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:85952600-85953400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:85952600-85953400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:85952600-85953400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:85952800-85953000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:85952800-85953200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:85952800-85953200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:85953400-85963000	Weak transcription	Brain Inferior Temporal Lobe	brain

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