Variant report

Variant	esv3334517
Chromosome Location	chr2:186398607-186403405
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	chr2:186378260..186381061-chr2:186398766..186401353,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs558941848	chr2:186398638-186398639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115035225	chr2:186398641-186398642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185057133	chr2:186398660-186398661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78643620	chr2:186398710-186398711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544632263	chr2:186398715-186398716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189331722	chr2:186398752-186398753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578250700	chr2:186398779-186398780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545673091	chr2:186398816-186398817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560755779	chr2:186398853-186398854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139552326	chr2:186398855-186398856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181749001	chr2:186398891-186398892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185229450	chr2:186398894-186398895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188145643	chr2:186398923-186398924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144471168	chr2:186398940-186398941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371272257	chr2:186399010-186399011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568475446	chr2:186399019-186399020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532757013	chr2:186399033-186399034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551309660	chr2:186399067-186399068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566739592	chr2:186399071-186399072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369479067	chr2:186399147-186399148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143362887	chr2:186399152-186399153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146642216	chr2:186399173-186399174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181387417	chr2:186399174-186399175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186452378	chr2:186399180-186399181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538295509	chr2:186399204-186399205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556605787	chr2:186399237-186399238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141326602	chr2:186399241-186399242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191051394	chr2:186399242-186399243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10195916	chr2:186399254-186399255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183763613	chr2:186399257-186399258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143348319	chr2:186399275-186399276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564833226	chr2:186399304-186399305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10206949	chr2:186399312-186399313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs528992522	chr2:186399337-186399338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185919878	chr2:186399340-186399341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191080535	chr2:186399351-186399352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10196025	chr2:186399355-186399356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs550947397	chr2:186399356-186399357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376077430	chr2:186399370-186399371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566667427	chr2:186399382-186399383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562653243	chr2:186399416-186399417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527553144	chr2:186399459-186399460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548908385	chr2:186399498-186399499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183347615	chr2:186399502-186399503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186891089	chr2:186399532-186399533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12619952	chr2:186399533-186399534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538026727	chr2:186399602-186399603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372814845	chr2:186399651-186399652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550342222	chr2:186399663-186399664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571746873	chr2:186399688-186399689	Weak transcription	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
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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186381400-186432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186394400-186402200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:186398600-186402200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:186400600-186405200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:186401600-186402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:186402000-186403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:186402200-186403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:186402200-186405200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:186402200-186405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:186402400-186402800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:186402400-186405000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:186402600-186404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:186402600-186404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:186403000-186403200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:186403000-186403400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:186403000-186403400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:186403200-186403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:186403200-186406600	Weak transcription	H9 Cell Line	embryonic stem cell

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