Variant report

Variant	esv3414082
Chromosome Location	chr4:7527152-7528067
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	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
2	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188596723	chr4:7527157-7527158	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs143144510	chr4:7527163-7527164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs550017978	chr4:7527187-7527188	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571623048	chr4:7527199-7527200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs532539687	chr4:7527219-7527220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530558567	chr4:7527221-7527222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs547844066	chr4:7527257-7527258	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs369937537	chr4:7527274-7527275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs536964844	chr4:7527352-7527353	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs71601855	chr4:7527386-7527387	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs555111328	chr4:7527395-7527396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs112764911	chr4:7527405-7527406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537899015	chr4:7527410-7527411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555980466	chr4:7527413-7527414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181710666	chr4:7527424-7527425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186175987	chr4:7527474-7527475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544590034	chr4:7527476-7527477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374219705	chr4:7527478-7527479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201037136	chr4:7527486-7527487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148255032	chr4:7527489-7527490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201707258	chr4:7527491-7527492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200068557	chr4:7527503-7527504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553380726	chr4:7527506-7527507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571982028	chr4:7527526-7527527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386671243	chr4:7527528-7527529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542576968	chr4:7527533-7527534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73082865	chr4:7527537-7527538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576163158	chr4:7527547-7527548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115712319	chr4:7527548-7527549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144008367	chr4:7527553-7527554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371956318	chr4:7527576-7527577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565361169	chr4:7527587-7527588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532680416	chr4:7527588-7527589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377113610	chr4:7527589-7527590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547781829	chr4:7527597-7527598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71175412	chr4:7527598-7527599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369800673	chr4:7527608-7527609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202148704	chr4:7527627-7527628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372390279	chr4:7527634-7527635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530378196	chr4:7527655-7527656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36061295	chr4:7527664-7527665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368106612	chr4:7527665-7527666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374338615	chr4:7527668-7527669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71601856	chr4:7527683-7527684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35589546	chr4:7527687-7527688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71175413	chr4:7527689-7527690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367565856	chr4:7527690-7527691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548602141	chr4:7527706-7527707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570373155	chr4:7527724-7527725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537239856	chr4:7527730-7527731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:7524800-7527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:7525600-7527200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:7525800-7527200	Weak transcription	Brain Germinal Matrix	brain
5	chr4:7525800-7527400	Enhancers	Ovary	ovary
6	chr4:7525800-7529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:7526200-7527200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:7526200-7527400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:7526200-7528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7526400-7527400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr4:7526800-7527400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:7527200-7527400	Enhancers	Brain Germinal Matrix	brain
13	chr4:7527400-7527600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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