Variant report

Variant	esv11390
Chromosome Location	chr4:7529269-7529859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7524802..7527211-chr4:7527477..7529278,2	MCF-7	breast:
2	chr4:7529694..7531413-chr4:7534964..7537319,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59998189	chr4:7529273-7529274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148781373	chr4:7529311-7529312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557427835	chr4:7529338-7529339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73082881	chr4:7529350-7529351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56787035	chr4:7529366-7529367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4429728	chr4:7529367-7529368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs59063136	chr4:7529376-7529377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573163846	chr4:7529380-7529381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143266904	chr4:7529421-7529422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368879603	chr4:7529422-7529423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562091864	chr4:7529423-7529424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558146875	chr4:7529455-7529456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544519135	chr4:7529471-7529472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74535960	chr4:7529472-7529473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530649521	chr4:7529501-7529502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552175014	chr4:7529508-7529509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564088605	chr4:7529516-7529517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77035883	chr4:7529518-7529519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7657901	chr4:7529543-7529544	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376239193	chr4:7529553-7529554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568313556	chr4:7529586-7529587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369900127	chr4:7529604-7529605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539833575	chr4:7529618-7529619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118094515	chr4:7529622-7529623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550538905	chr4:7529634-7529635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192774352	chr4:7529655-7529656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78790049	chr4:7529665-7529666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548462679	chr4:7529667-7529668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557686168	chr4:7529696-7529697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572903799	chr4:7529710-7529711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533982374	chr4:7529714-7529715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561299252	chr4:7529720-7529721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139054260	chr4:7529725-7529726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574285458	chr4:7529744-7529745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528800543	chr4:7529761-7529762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544769487	chr4:7529776-7529777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373085711	chr4:7529779-7529780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7684195	chr4:7529780-7529781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547189570	chr4:7529790-7529791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72253858	chr4:7529795-7529796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575377547	chr4:7529819-7529820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545925693	chr4:7529824-7529825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564025373	chr4:7529836-7529837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386671245	chr4:7529842-7529843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539534748	chr4:7529844-7529845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200175764	chr4:7529846-7529847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201244193	chr4:7529847-7529848	Weak transcription Enhancers	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7528800-7529400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7528800-7529600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7528800-7529800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7528800-7530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:7528800-7532400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:7529000-7529400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:7529200-7529400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:7529200-7529800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:7529200-7530000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:7529400-7529600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:7529400-7529600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:7529400-7529800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:7529400-7530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:7529400-7530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:7529400-7534400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:7529600-7530600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:7529600-7530800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:7529600-7531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:7529800-7530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:7529800-7530800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7529800-7531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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