Variant report

Variant	esv3416805
Chromosome Location	chr2:184342157-184345105
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	chr2:184335971..184338207-chr2:184339965..184342303,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576917508	chr2:184342169-184342170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386653381	chr2:184342216-184342217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372731886	chr2:184342282-184342283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114891676	chr2:184342286-184342287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531751772	chr2:184342333-184342334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548149729	chr2:184342396-184342397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540267485	chr2:184342420-184342421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7567519	chr2:184342453-184342454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527616142	chr2:184342492-184342493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547608765	chr2:184342551-184342552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570698312	chr2:184342557-184342558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386653382	chr2:184342570-184342571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114848392	chr2:184342571-184342572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7567725	chr2:184342579-184342580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535417097	chr2:184342602-184342603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554332465	chr2:184342615-184342616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7567749	chr2:184342631-184342632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112339674	chr2:184342643-184342644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575074391	chr2:184342671-184342672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111864119	chr2:184342676-184342677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184531179	chr2:184342689-184342690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556531834	chr2:184342723-184342724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576313775	chr2:184342736-184342737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553907897	chr2:184342744-184342745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577025216	chr2:184342804-184342805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56774845	chr2:184342858-184342859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545863104	chr2:184342990-184342991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563013668	chr2:184342991-184342992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189808176	chr2:184342998-184342999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57157559	chr2:184343018-184343019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs12613271	chr2:184343024-184343025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527571300	chr2:184343027-184343028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10931080	chr2:184343035-184343036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564247760	chr2:184343037-184343038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533179475	chr2:184343097-184343098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372136387	chr2:184343103-184343104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12613342	chr2:184343112-184343113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529027470	chr2:184343209-184343210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112054135	chr2:184343223-184343224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13027266	chr2:184343228-184343229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116290150	chr2:184343252-184343253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111980970	chr2:184343287-184343288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181125780	chr2:184343301-184343302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13389804	chr2:184343349-184343350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138787576	chr2:184343403-184343404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112541973	chr2:184343421-184343422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186568108	chr2:184343430-184343431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556506438	chr2:184343475-184343476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552084605	chr2:184343493-184343494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576476870	chr2:184343510-184343511	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
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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184341600-184342200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:184341800-184342400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:184342000-184342200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:184342000-184342400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:184342000-184342400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:184342400-184352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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