Variant report

Variant	esv3441342
Chromosome Location	chr3:85649312-85651910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555156852	chr3:85649354-85649355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182120002	chr3:85649375-85649376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540559754	chr3:85649408-85649409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375049295	chr3:85649410-85649411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115282974	chr3:85649418-85649419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184960831	chr3:85649597-85649598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577144014	chr3:85649666-85649667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138096331	chr3:85649668-85649669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74825713	chr3:85649791-85649792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116655775	chr3:85649793-85649794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534885918	chr3:85649802-85649803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75757535	chr3:85649803-85649804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191470039	chr3:85649812-85649813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560740804	chr3:85649818-85649819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs207463282	chr3:85649823-85649824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528322916	chr3:85649964-85649965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546556914	chr3:85649967-85649968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143138827	chr3:85650003-85650004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9866322	chr3:85650004-85650005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550555963	chr3:85650021-85650022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568876098	chr3:85650042-85650043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182798250	chr3:85650056-85650057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34612561	chr3:85650118-85650119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71316807	chr3:85650155-85650156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188854011	chr3:85650196-85650197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9866761	chr3:85650217-85650218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10663541	chr3:85650274-85650275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375011644	chr3:85650281-85650282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9809195	chr3:85650282-85650283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113428108	chr3:85650283-85650284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113979048	chr3:85650284-85650285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199523984	chr3:85650286-85650287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200256651	chr3:85650288-85650289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374997500	chr3:85650290-85650291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80348881	chr3:85650307-85650308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80284780	chr3:85650309-85650310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78268516	chr3:85650311-85650312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9870611	chr3:85650313-85650314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201663531	chr3:85650319-85650320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199774049	chr3:85650321-85650322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200739311	chr3:85650323-85650324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374397941	chr3:85650324-85650325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75654671	chr3:85650339-85650340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112523595	chr3:85650341-85650342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556091054	chr3:85650345-85650346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574533745	chr3:85650349-85650350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72615728	chr3:85650356-85650357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545647693	chr3:85650394-85650395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34280830	chr3:85650406-85650407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78403398	chr3:85650417-85650418	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
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
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85644000-85652200	Weak transcription	Fetal Brain Male	brain
2	chr3:85651200-85651400	Enhancers	Brain Anterior Caudate	brain
3	chr3:85651400-85653000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:85651400-85653400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:85651800-85652000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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