Variant report

Variant	esv3521623
Chromosome Location	chr4:7455136-7457531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:7456112-7456210	Kidney_OC	kidney:	n/a	n/a
2	MYC	chr4:7456148-7456364	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:
2	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:
3	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:

Variant related genes	Relation type
MIR4274	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555796538	chr4:7455158-7455159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200302972	chr4:7455169-7455170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112265976	chr4:7455178-7455179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375694636	chr4:7455189-7455190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556963238	chr4:7455191-7455192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575439409	chr4:7455206-7455207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368768699	chr4:7455209-7455210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558023197	chr4:7455239-7455240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572960828	chr4:7455271-7455272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540373456	chr4:7455295-7455296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55930129	chr4:7455318-7455319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199560312	chr4:7455353-7455354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561854228	chr4:7455382-7455383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529150008	chr4:7455400-7455401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544231266	chr4:7455443-7455444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562524047	chr4:7455454-7455455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3888319	chr4:7455463-7455464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551452988	chr4:7455520-7455521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566918693	chr4:7455544-7455545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201661993	chr4:7455614-7455615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527884979	chr4:7455649-7455650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549527629	chr4:7455655-7455656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200784354	chr4:7455657-7455658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199921127	chr4:7455695-7455696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80263579	chr4:7455712-7455713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528303428	chr4:7455732-7455733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142209846	chr4:7455746-7455747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557042564	chr4:7455811-7455812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376436541	chr4:7455813-7455814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201908551	chr4:7455831-7455832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35630191	chr4:7455842-7455843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150428013	chr4:7455886-7455887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188367481	chr4:7455891-7455892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539399063	chr4:7455903-7455904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557569692	chr4:7455947-7455948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572865701	chr4:7455957-7455958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540066693	chr4:7455961-7455962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546672471	chr4:7455981-7455982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571454838	chr4:7455986-7455987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555519965	chr4:7456031-7456032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573884385	chr4:7456069-7456070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544100185	chr4:7456114-7456115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375645382	chr4:7456162-7456163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34711670	chr4:7456183-7456184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533167403	chr4:7456186-7456187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376814461	chr4:7456193-7456194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560405573	chr4:7456206-7456207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527752353	chr4:7456253-7456254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202219598	chr4:7456257-7456258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549347332	chr4:7456268-7456269	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7454400-7458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:7455000-7460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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