Variant report

Variant	esv3419904
Chromosome Location	chr2:183088407-183093505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543527399	chr2:183088417-183088418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563748739	chr2:183088422-183088423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370021650	chr2:183088433-183088434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145838856	chr2:183088442-183088443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73043827	chr2:183088465-183088466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566329916	chr2:183088518-183088519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3754929	chr2:183088584-183088585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs371630386	chr2:183088591-183088592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200135261	chr2:183088661-183088662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201353418	chr2:183088709-183088710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377283034	chr2:183088729-183088730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556773749	chr2:183088746-183088747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73977311	chr2:183088769-183088770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553797987	chr2:183088772-183088773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535828581	chr2:183088847-183088848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189386918	chr2:183088864-183088865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182087356	chr2:183088886-183088887	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544884504	chr2:183088894-183088895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186055683	chr2:183088900-183088901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370236738	chr2:183088964-183088965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575091601	chr2:183088991-183088992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145700041	chr2:183089001-183089002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563590708	chr2:183089028-183089029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147740181	chr2:183089029-183089030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542622116	chr2:183089082-183089083	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559768568	chr2:183089109-183089110	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28439754	chr2:183089124-183089125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528824479	chr2:183089186-183089187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534631155	chr2:183089219-183089220	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190828363	chr2:183089225-183089226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141152017	chr2:183089352-183089353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13034133	chr2:183089363-183089364	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs146922707	chr2:183089566-183089567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183086893	chr2:183089590-183089591	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536085950	chr2:183089597-183089598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75414030	chr2:183089598-183089599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370534991	chr2:183089612-183089613	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546309756	chr2:183089645-183089646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566108534	chr2:183089649-183089650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186393197	chr2:183089676-183089677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191550433	chr2:183089679-183089680	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575104889	chr2:183089727-183089728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374245894	chr2:183089728-183089729	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575775728	chr2:183089751-183089752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542947682	chr2:183089815-183089816	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200672660	chr2:183089816-183089817	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544714863	chr2:183089820-183089821	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147278914	chr2:183089841-183089842	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150960862	chr2:183089860-183089861	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554688936	chr2:183089911-183089912	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
2	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
3	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:183086400-183088800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:183086400-183089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183087400-183089800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
8	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:183088400-183088800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:183088400-183091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:183088400-183092000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:183088800-183092600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:183089800-183090000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:183091400-183093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:183092000-183092800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:183092000-183096000	Enhancers	NHDF-Ad	bronchial
17	chr2:183092200-183093800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:183092200-183096000	Enhancers	NHLF	lung
19	chr2:183092400-183096200	Enhancers	Osteobl	bone
20	chr2:183092600-183093200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:183092800-183093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:183092800-183093200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:183092800-183093400	Enhancers	HSMM	muscle
24	chr2:183093000-183094600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:183093000-183096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:183093200-183094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:183093200-183096000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:183093400-183093800	Weak transcription	HSMM	muscle
29	chr2:183093400-183095600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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