Variant report

Variant	esv3512301
Chromosome Location	chr4:3827716-3827884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3824171..3826051-chr4:3826222..3829148,2	K562	blood:
2	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:
3	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
4	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
5	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
6	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
7	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
8	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
9	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
10	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:

No data

Extended variants
information (count: 46 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112331645	chr4:3827719-3827720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371466863	chr4:3827724-3827725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375011713	chr4:3827733-3827734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376613637	chr4:3827736-3827737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200677075	chr4:3827737-3827738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111760039	chr4:3827748-3827749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542915543	chr4:3827749-3827750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553294732	chr4:3827759-3827760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555866868	chr4:3827760-3827761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573099311	chr4:3827761-3827762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538754135	chr4:3827762-3827763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545300936	chr4:3827763-3827764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565364634	chr4:3827766-3827767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530927002	chr4:3827769-3827770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544568650	chr4:3827771-3827772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80050584	chr4:3827774-3827775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529163350	chr4:3827775-3827776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28535641	chr4:3827783-3827784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62291148	chr4:3827785-3827786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116051630	chr4:3827787-3827788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28629943	chr4:3827789-3827790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144426820	chr4:3827792-3827793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188400025	chr4:3827800-3827801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145808412	chr4:3827802-3827803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138454882	chr4:3827806-3827807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536768536	chr4:3827809-3827810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193037086	chr4:3827811-3827812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375755112	chr4:3827813-3827814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182791288	chr4:3827815-3827816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187076851	chr4:3827816-3827817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369316856	chr4:3827818-3827819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28514927	chr4:3827826-3827827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539192260	chr4:3827836-3827837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183746052	chr4:3827843-3827844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188121429	chr4:3827847-3827848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193100564	chr4:3827852-3827853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185571544	chr4:3827853-3827854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190053445	chr4:3827857-3827858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181773229	chr4:3827860-3827861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561406908	chr4:3827861-3827862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574881519	chr4:3827864-3827865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540657203	chr4:3827868-3827869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184099793	chr4:3827869-3827870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188539000	chr4:3827873-3827874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181007150	chr4:3827878-3827879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112214679	chr4:3827883-3827884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3821400-3828400	Enhancers	HepG2	liver
2	chr4:3821600-3829400	Weak transcription	A549	lung
3	chr4:3823800-3832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:3824000-3828600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:3824200-3828600	Weak transcription	Spleen	Spleen
6	chr4:3824400-3828600	Weak transcription	Pancreas	Pancrea
7	chr4:3824400-3831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3825800-3828600	Weak transcription	Ovary	ovary
9	chr4:3827000-3828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3827200-3831400	Enhancers	Liver	Liver

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