Variant report

Variant	esv1818289
Chromosome Location	chr4:7443285-7451187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7445641..7447880-chr4:7451112..7453216,2	K562	blood:
2	chr4:7444681..7447159-chr4:7457852..7459823,2	MCF-7	breast:
3	chr4:7445641..7447880-chr4:7451112..7453216,2	K562	blood:

Extended variants
information (count: 450 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73086351	chr4:7443299-7443300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371033518	chr4:7443336-7443337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75606651	chr4:7443377-7443378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555298056	chr4:7443388-7443389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200480651	chr4:7443402-7443403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183768681	chr4:7443404-7443405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74201436	chr4:7443432-7443433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577115119	chr4:7443440-7443441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374955146	chr4:7443464-7443465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534894037	chr4:7443468-7443469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189697521	chr4:7443481-7443482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544763703	chr4:7443482-7443483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560324981	chr4:7443483-7443484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200688942	chr4:7443488-7443489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572494063	chr4:7443537-7443538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571908708	chr4:7443630-7443631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542557083	chr4:7443743-7443744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560857889	chr4:7443744-7443745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181235556	chr4:7443874-7443875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184639789	chr4:7443920-7443921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531456590	chr4:7443927-7443928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549786322	chr4:7443928-7443929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190257453	chr4:7444053-7444054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181397259	chr4:7444091-7444092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186426962	chr4:7444105-7444106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190889020	chr4:7444123-7444124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180958549	chr4:7444166-7444167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185024756	chr4:7444271-7444272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532671572	chr4:7444320-7444321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190653833	chr4:7444326-7444327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547550351	chr4:7444333-7444334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536830714	chr4:7444380-7444381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62277605	chr4:7444384-7444385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565312626	chr4:7444385-7444386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532699848	chr4:7444419-7444420	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs370041699	chr4:7444434-7444435	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs370473809	chr4:7444441-7444442	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs150512206	chr4:7444469-7444470	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs556138531	chr4:7444533-7444534	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs199862409	chr4:7444539-7444540	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs551508095	chr4:7444543-7444544	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs138743413	chr4:7444551-7444552	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs367629811	chr4:7444552-7444553	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs141827192	chr4:7444571-7444572	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs146282724	chr4:7444616-7444617	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs139294251	chr4:7444629-7444630	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs183347845	chr4:7444648-7444649	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs545018629	chr4:7444686-7444687	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs560724251	chr4:7444691-7444692	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs78904156	chr4:7444704-7444705	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
2	chr4:7438200-7447000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7442600-7443400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7443000-7443400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:7443000-7443400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7443200-7443400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:7443200-7444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7443400-7444400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:7443400-7444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7443400-7444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:7443400-7444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7444400-7444800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:7444400-7444800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7444400-7444800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:7444400-7444800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:7444400-7444800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:7444400-7444800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr4:7444400-7445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:7444400-7445000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:7444400-7445200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:7444400-7445200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:7444600-7444800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:7444800-7448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:7445200-7445800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7445800-7451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7446200-7446600	Enhancers	HepG2	liver
27	chr4:7446200-7447000	Enhancers	Liver	Liver
28	chr4:7446200-7447000	Enhancers	Stomach Mucosa	stomach
29	chr4:7446600-7453400	Weak transcription	Brain Substantia Nigra	brain
30	chr4:7446800-7447200	Enhancers	Fetal Muscle Leg	muscle
31	chr4:7447000-7447200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr4:7447000-7447800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr4:7447000-7448200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:7447200-7447600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:7448000-7448200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:7448000-7448400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr4:7449200-7449400	Enhancers	Ovary	ovary
38	chr4:7449400-7449600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:7449400-7449800	Flanking Active TSS	Ovary	ovary
40	chr4:7449600-7449800	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr4:7449800-7450200	Enhancers	Ovary	ovary
42	chr4:7450200-7451200	Weak transcription	Ovary	ovary

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