Variant report

Variant	nsv520804
Chromosome Location	chr4:7473863-7475114
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	chr4:7474972..7476940-chr4:7478120..7479939,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10026218	chr4:7473863-7473864	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531112840	chr4:7473864-7473865	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147470525	chr4:7473881-7473882	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571237918	chr4:7473885-7473886	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371910524	chr4:7473908-7473909	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538227611	chr4:7473926-7473927	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138403784	chr4:7473938-7473939	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565619959	chr4:7473972-7473973	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143802015	chr4:7473995-7473996	Enhancers Genic enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554798830	chr4:7474001-7474002	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182472196	chr4:7474043-7474044	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376823536	chr4:7474061-7474062	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535159385	chr4:7474115-7474116	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543756673	chr4:7474120-7474121	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558547394	chr4:7474127-7474128	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112233647	chr4:7474128-7474129	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57503382	chr4:7474146-7474147	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189750152	chr4:7474152-7474153	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530131537	chr4:7474154-7474155	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147252039	chr4:7474159-7474160	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572495741	chr4:7474173-7474174	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563548258	chr4:7474175-7474176	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530974290	chr4:7474238-7474239	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368402557	chr4:7474244-7474245	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28479426	chr4:7474253-7474254	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532165123	chr4:7474254-7474255	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28495699	chr4:7474258-7474259	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565812954	chr4:7474268-7474269	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536354162	chr4:7474280-7474281	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576193510	chr4:7474325-7474326	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554672302	chr4:7474333-7474334	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16840336	chr4:7474352-7474353	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182171641	chr4:7474356-7474357	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112554425	chr4:7474358-7474359	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28589370	chr4:7474366-7474367	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113084301	chr4:7474373-7474374	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553097191	chr4:7474380-7474381	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530530045	chr4:7474382-7474383	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576771467	chr4:7474433-7474434	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144861827	chr4:7474434-7474435	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559230237	chr4:7474454-7474455	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114017989	chr4:7474455-7474456	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564837449	chr4:7474458-7474459	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187113971	chr4:7474478-7474479	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547223156	chr4:7474479-7474480	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559409324	chr4:7474496-7474497	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34513297	chr4:7474500-7474501	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529688548	chr4:7474510-7474511	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190045173	chr4:7474515-7474516	Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569753924	chr4:7474516-7474517	Enhancers Bivalent Enhancer Genic enhancers 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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7471600-7480600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:7472000-7474000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:7472400-7475000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:7473200-7476000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7473400-7474000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr4:7473400-7475400	Enhancers	Brain Germinal Matrix	brain
7	chr4:7473600-7474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:7473600-7474600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr4:7473600-7475200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7473600-7475200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr4:7473600-7475400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:7473800-7474200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:7473800-7474600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7473800-7475200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:7473800-7475200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:7473800-7475400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:7474000-7474200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:7474000-7474600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:7474000-7474800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:7474000-7474800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:7474000-7474800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:7474000-7475000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:7474200-7475000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:7474400-7474600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr4:7474600-7475000	Enhancers	Fetal Kidney	kidney
26	chr4:7475000-7475400	Enhancers	Brain Anterior Caudate	brain

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