Variant report

Variant	esv3420714
Chromosome Location	chr4:3827966-3828126
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	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
3	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
4	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
5	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
6	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
7	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
8	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
9	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
10	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:

No data

Extended variants
information (count: 33 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575741645	chr4:3827970-3827971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373806993	chr4:3827975-3827976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538476630	chr4:3827979-3827980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115029098	chr4:3827982-3827983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71605193	chr4:3827991-3827992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141538956	chr4:3827994-3827995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371407827	chr4:3827999-3828000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145191960	chr4:3828003-3828004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs71605195	chr4:3828006-3828007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs147615509	chr4:3828008-3828009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs372643697	chr4:3828016-3828017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs376870478	chr4:3828017-3828018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs187313947	chr4:3828020-3828021	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs140602080	chr4:3828025-3828026	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs190278184	chr4:3828027-3828028	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs144552423	chr4:3828029-3828030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs149131206	chr4:3828034-3828035	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs370206161	chr4:3828043-3828044	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs111467833	chr4:3828046-3828047	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs555077098	chr4:3828051-3828052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs575018164	chr4:3828052-3828053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs62291149	chr4:3828058-3828059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs73794441	chr4:3828068-3828069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573044749	chr4:3828069-3828070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs372329988	chr4:3828072-3828073	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs565232286	chr4:3828074-3828075	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs369207835	chr4:3828077-3828078	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs62291151	chr4:3828078-3828079	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs560615899	chr4:3828079-3828080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs529763468	chr4:3828084-3828085	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs182880871	chr4:3828085-3828086	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs546144035	chr4:3828104-3828105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566356066	chr4:3828110-3828111	Weak transcription Enhancers Bivalent Enhancer	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:11 , 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
11	chr4:3828000-3828800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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