Variant report

Variant	esv18305
Chromosome Location	chr4:7453227-7457688
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	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:
3	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:

Variant related genes	Relation type
MIR4274	TF binding region

Extended variants
information (count: 245 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548861029	chr4:7453239-7453240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560763569	chr4:7453292-7453293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531346862	chr4:7453335-7453336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549338514	chr4:7453342-7453343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144750769	chr4:7453389-7453390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376350444	chr4:7453431-7453432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538330622	chr4:7453439-7453440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73796589	chr4:7453459-7453460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116280547	chr4:7453474-7453475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575102371	chr4:7453482-7453483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113999731	chr4:7453510-7453511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201770641	chr4:7453518-7453519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148084345	chr4:7453538-7453539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576208019	chr4:7453539-7453540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537466408	chr4:7453564-7453565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558960315	chr4:7453582-7453583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113033305	chr4:7453583-7453584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552031965	chr4:7453595-7453596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577450403	chr4:7453600-7453601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73086387	chr4:7453603-7453604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370028756	chr4:7453638-7453639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187655058	chr4:7453672-7453673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373063781	chr4:7453687-7453688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564030677	chr4:7453693-7453694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531075911	chr4:7453728-7453729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543048236	chr4:7453763-7453764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560654318	chr4:7453772-7453773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532121399	chr4:7453778-7453779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191177127	chr4:7453784-7453785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565595355	chr4:7453844-7453845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13141334	chr4:7453845-7453846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182528539	chr4:7453938-7453939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569952768	chr4:7453949-7453950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369147771	chr4:7453971-7453972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559021396	chr4:7453975-7453976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570857129	chr4:7453990-7453991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535166250	chr4:7454021-7454022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112680621	chr4:7454024-7454025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574793624	chr4:7454025-7454026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542424832	chr4:7454027-7454028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150680490	chr4:7454056-7454057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13147342	chr4:7454063-7454064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567818676	chr4:7454070-7454071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564577817	chr4:7454077-7454078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531987875	chr4:7454116-7454117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186849489	chr4:7454164-7454165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537859968	chr4:7454165-7454166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373017773	chr4:7454217-7454218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529722977	chr4:7454226-7454227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548402084	chr4:7454240-7454241	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7446600-7453400	Weak transcription	Brain Substantia Nigra	brain
3	chr4:7453200-7453600	Enhancers	Brain Hippocampus Middle	brain
4	chr4:7453200-7453800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7453400-7453600	Enhancers	Brain Substantia Nigra	brain
6	chr4:7453600-7453800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7453600-7453800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:7453800-7454200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:7454200-7455000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7454400-7458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:7455000-7460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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