Variant report

Variant	esv3328128
Chromosome Location	chr4:7306743-7307074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201397600	chr4:7306755-7306756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199648289	chr4:7306761-7306762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139906409	chr4:7306762-7306763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs33988715	chr4:7306763-7306764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71646696	chr4:7306773-7306774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531161974	chr4:7306790-7306791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552492492	chr4:7306842-7306843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4079443	chr4:7306844-7306845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186921319	chr4:7306851-7306852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532712768	chr4:7306852-7306853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565306825	chr4:7306857-7306858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529751829	chr4:7306858-7306859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547912212	chr4:7306859-7306860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145437751	chr4:7306868-7306869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537293687	chr4:7306887-7306888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558428547	chr4:7306894-7306895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570729531	chr4:7306896-7306897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190415494	chr4:7306901-7306902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553420022	chr4:7306932-7306933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371903201	chr4:7306948-7306949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542221666	chr4:7306959-7306960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557536737	chr4:7306960-7306961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182786230	chr4:7306962-7306963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546385885	chr4:7306965-7306966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113474240	chr4:7306966-7306967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528801447	chr4:7306975-7306976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540489044	chr4:7306979-7306980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190745089	chr4:7306980-7306981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548886211	chr4:7306985-7306986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547776417	chr4:7306987-7306988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565349991	chr4:7306988-7306989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567576833	chr4:7306993-7306994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538158180	chr4:7307000-7307001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530477431	chr4:7307004-7307005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552372838	chr4:7307005-7307006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570519870	chr4:7307006-7307007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534795255	chr4:7307009-7307010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372802917	chr4:7307022-7307023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553330861	chr4:7307024-7307025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556461145	chr4:7307029-7307030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377227255	chr4:7307031-7307032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370732314	chr4:7307033-7307034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575694940	chr4:7307041-7307042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545952345	chr4:7307049-7307050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182597263	chr4:7307053-7307054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200281795	chr4:7307065-7307066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3030979	chr4:7307066-7307067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3075135	chr4:7307067-7307068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142498048	chr4:7307068-7307069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72600605	chr4:7307069-7307070	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7297800-7308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:7297800-7308800	Weak transcription	Right Atrium	heart
3	chr4:7302600-7308600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7304400-7307200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7304400-7307400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:7304400-7307600	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7304800-7309000	Weak transcription	Fetal Brain Male	brain
8	chr4:7305200-7308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:7305600-7307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7305600-7307600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7306000-7307600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7306400-7306800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:7306600-7306800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:7306600-7308400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:7306800-7307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:7306800-7308000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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