Variant report

Variant	esv3348954
Chromosome Location	chr2:209500632-209503055
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	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
2	chr2:209339603..209341733-chr2:209501873..209504107,2	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577911622	chr2:209500662-209500663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189001732	chr2:209500670-209500671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543364235	chr2:209500786-209500787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13024405	chr2:209500788-209500789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550092961	chr2:209500800-209500801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1429879	chr2:209500802-209500803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs151165487	chr2:209500820-209500821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559058386	chr2:209500823-209500824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34877536	chr2:209500834-209500835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397873204	chr2:209500836-209500837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572728928	chr2:209500846-209500847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545034171	chr2:209500868-209500869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139163181	chr2:209500876-209500877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531194271	chr2:209500978-209500979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551299716	chr2:209501015-209501016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374887793	chr2:209501032-209501033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75545342	chr2:209501033-209501034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541151193	chr2:209501051-209501052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530331549	chr2:209501060-209501061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547097638	chr2:209501109-209501110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181040399	chr2:209501229-209501230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187167193	chr2:209501295-209501296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191137155	chr2:209501306-209501307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569163208	chr2:209501316-209501317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144012526	chr2:209501322-209501323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181976241	chr2:209501328-209501329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577779392	chr2:209501339-209501340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144109408	chr2:209501347-209501348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544869358	chr2:209501361-209501362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16841506	chr2:209501364-209501365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570852225	chr2:209501369-209501370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146472735	chr2:209501381-209501382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565850066	chr2:209501383-209501384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572933084	chr2:209501443-209501444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12477695	chr2:209501456-209501457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12477763	chr2:209501457-209501458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185990454	chr2:209501464-209501465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544883254	chr2:209501475-209501476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199584388	chr2:209501487-209501488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561599878	chr2:209501495-209501496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377187035	chr2:209501503-209501504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149744254	chr2:209501518-209501519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190660603	chr2:209501519-209501520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200537106	chr2:209501526-209501527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201814062	chr2:209501527-209501528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12469676	chr2:209501529-209501530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546727808	chr2:209501535-209501536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547257156	chr2:209501536-209501537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560531866	chr2:209501537-209501538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374134179	chr2:209501542-209501543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209494600-209502400	Weak transcription	K562	blood
2	chr2:209495000-209512800	Weak transcription	Fetal Kidney	kidney
3	chr2:209502400-209503400	Enhancers	K562	blood
4	chr2:209502800-209503600	Enhancers	Fetal Intestine Large	intestine
5	chr2:209503000-209503400	Enhancers	Fetal Intestine Small	intestine

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