Variant report

Variant	esv1844920
Chromosome Location	chr4:10399096-10402489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:10390019..10393146-chr4:10400722..10404569,4	K562	blood:
2	chr4:10184632..10187184-chr4:10400763..10402949,2	K562	blood:
3	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
4	chr4:10181802..10184742-chr4:10401642..10403855,2	K562	blood:
5	chr4:10391155..10393700-chr4:10401011..10403355,4	MCF-7	breast:
6	chr4:10180539..10184306-chr4:10401076..10403855,3	K562	blood:
7	chr4:10185450..10187184-chr4:10401056..10402949,2	K562	blood:

Variant related genes	Relation type
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4604051	chr4:10399096-10399097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543859738	chr4:10399109-10399110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73104910	chr4:10399133-10399134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73224473	chr4:10399173-10399174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577650526	chr4:10399242-10399243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560140604	chr4:10399292-10399293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73104913	chr4:10399316-10399317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369718549	chr4:10399338-10399339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548964211	chr4:10399380-10399381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567292233	chr4:10399386-10399387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113546158	chr4:10399438-10399439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35427072	chr4:10399456-10399457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55885405	chr4:10399465-10399466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147877508	chr4:10399495-10399496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141604649	chr4:10399513-10399514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571404714	chr4:10399518-10399519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539640015	chr4:10399520-10399521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545117245	chr4:10399521-10399522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147065703	chr4:10399570-10399571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534643805	chr4:10399576-10399577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534526707	chr4:10399580-10399581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555317318	chr4:10399586-10399587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192635139	chr4:10399595-10399596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184617451	chr4:10399673-10399674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189214687	chr4:10399690-10399691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118055764	chr4:10399733-10399734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79975014	chr4:10399741-10399742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181786702	chr4:10399866-10399867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185119544	chr4:10399941-10399942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542921224	chr4:10399980-10399981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6812493	chr4:10400019-10400020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531320994	chr4:10400023-10400024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549847196	chr4:10400050-10400051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564780459	chr4:10400063-10400064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34535444	chr4:10400074-10400075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74333049	chr4:10400075-10400076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75307164	chr4:10400076-10400077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13103682	chr4:10400097-10400098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13103688	chr4:10400100-10400101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551651838	chr4:10400125-10400126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567078737	chr4:10400147-10400148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189585595	chr4:10400152-10400153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4607209	chr4:10400156-10400157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567659819	chr4:10400172-10400173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537846584	chr4:10400209-10400210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56215029	chr4:10400212-10400213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs55842943	chr4:10400224-10400225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181340525	chr4:10400234-10400235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554001370	chr4:10400265-10400266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114428343	chr4:10400274-10400275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10387000-10403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10396800-10399600	Enhancers	HMEC	breast
3	chr4:10397000-10400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:10397200-10399200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:10398400-10403400	Weak transcription	K562	blood
6	chr4:10399000-10405600	Weak transcription	NHEK	skin
7	chr4:10399200-10402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:10399600-10400000	Weak transcription	HMEC	breast
9	chr4:10400000-10400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:10400000-10400600	Enhancers	HMEC	breast
11	chr4:10400400-10400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:10400600-10405200	Weak transcription	HMEC	breast
13	chr4:10400600-10405400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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