Variant report

Variant	esv3439094
Chromosome Location	chr2:190852495-190889473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190884587..190886335-chr2:190886662..190888576,2	K562	blood:
2	chr2:190888760..190889590-chr2:190934656..190935555,3	MCF-7	breast:
3	chr2:190884587..190886335-chr2:190886662..190888576,2	K562	blood:

Extended variants
information (count: 274 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185121659	chr2:190861821-190861822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150154694	chr2:190861862-190861863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577185012	chr2:190861990-190861991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541047016	chr2:190862005-190862006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559352919	chr2:190862022-190862023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189643691	chr2:190862060-190862061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138616096	chr2:190862062-190862063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200119733	chr2:190862065-190862066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563220050	chr2:190862106-190862107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531958133	chr2:190862110-190862111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550076927	chr2:190862174-190862175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550967730	chr2:190866624-190866625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199989801	chr2:190866632-190866633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114622690	chr2:190866640-190866641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555079861	chr2:190866667-190866668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567323975	chr2:190866708-190866709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374762038	chr2:190866765-190866766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557487223	chr2:190866838-190866839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528714765	chr2:190866881-190866882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75634465	chr2:190867001-190867002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192024818	chr2:190867067-190867068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145321786	chr2:190867068-190867069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558479791	chr2:190867117-190867118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182490804	chr2:190867187-190867188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540609029	chr2:190867225-190867226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562064223	chr2:190867231-190867232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574045877	chr2:190867264-190867265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370864042	chr2:190867280-190867281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7585739	chr2:190867281-190867282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547150380	chr2:190867296-190867297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112650351	chr2:190867300-190867301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539512033	chr2:190867308-190867309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532959346	chr2:190867339-190867340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551305400	chr2:190867392-190867393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374122050	chr2:190867399-190867400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142157761	chr2:190873888-190873889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569581754	chr2:190873890-190873891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34806740	chr2:190873911-190873912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs146616520	chr2:190873917-190873918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546844370	chr2:190873996-190873997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139116054	chr2:190874005-190874006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116659419	chr2:190874007-190874008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76780263	chr2:190874066-190874067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75912157	chr2:190874099-190874100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189397357	chr2:190874108-190874109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538479478	chr2:190874167-190874168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113414915	chr2:190874191-190874192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556735387	chr2:190874299-190874300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548195202	chr2:190874341-190874342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555897612	chr2:190874347-190874348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190861800-190862200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:190866600-190867400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:190873800-190875000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:190875000-190875400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:190883600-190883800	ZNF genes & repeats	Aorta	Aorta
6	chr2:190884400-190893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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