Variant report

Variant	esv2756960
Chromosome Location	chr2:213187203-213193424
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	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1505346	chr2:213187203-213187204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565761248	chr2:213187204-213187205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547296043	chr2:213187206-213187207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528264118	chr2:213187220-213187221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565505391	chr2:213187235-213187236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551536380	chr2:213187247-213187248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186678531	chr2:213187248-213187249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537091954	chr2:213187262-213187263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556675574	chr2:213187333-213187334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376641799	chr2:213187351-213187352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567204925	chr2:213187362-213187363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10164827	chr2:213187368-213187369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74179601	chr2:213187379-213187380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10164996	chr2:213187380-213187381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374913038	chr2:213187397-213187398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75719406	chr2:213187448-213187449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115740912	chr2:213187454-213187455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577704780	chr2:213187495-213187496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543856602	chr2:213187523-213187524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9288452	chr2:213187551-213187552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529261997	chr2:213187571-213187572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542575315	chr2:213187586-213187587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559673997	chr2:213187593-213187594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528323368	chr2:213187628-213187629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191517169	chr2:213187661-213187662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35638693	chr2:213187664-213187665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571408610	chr2:213187669-213187670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530633221	chr2:213187722-213187723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140251785	chr2:213187733-213187734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567164383	chr2:213187735-213187736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145213255	chr2:213187745-213187746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138143665	chr2:213187762-213187763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566029163	chr2:213187775-213187776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534927335	chr2:213187799-213187800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142627365	chr2:213187831-213187832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12694273	chr2:213187862-213187863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12694274	chr2:213187870-213187871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144044481	chr2:213187886-213187887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573106245	chr2:213187891-213187892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573985011	chr2:213187896-213187897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370970858	chr2:213187918-213187919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555575912	chr2:213187922-213187923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184852105	chr2:213187927-213187928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529910943	chr2:213187959-213187960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189784873	chr2:213187990-213187991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12993440	chr2:213188013-213188014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545284213	chr2:213188016-213188017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565097231	chr2:213188032-213188033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148259208	chr2:213188071-213188072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141253575	chr2:213188084-213188085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
4	chr2:213185600-213192000	Weak transcription	Fetal Lung	lung
5	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
6	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
7	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
9	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:213192000-213192400	Enhancers	A549	lung
12	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
13	chr2:213192000-213193000	Enhancers	HepG2	liver
14	chr2:213192200-213193000	Weak transcription	Fetal Lung	lung
15	chr2:213192200-213193000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:213192600-213193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:213192800-213193200	Enhancers	Fetal Intestine Small	intestine
18	chr2:213192800-213193200	Enhancers	Fetal Stomach	stomach
19	chr2:213193000-213195000	Enhancers	Fetal Lung	lung

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