Variant report

Variant	esv3399435
Chromosome Location	chr4:9904554-9906702
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	chr4:9903730..9906582-chr4:9912941..9915065,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569645122	chr4:9904555-9904556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143173662	chr4:9904568-9904569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192688256	chr4:9904596-9904597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75805865	chr4:9904600-9904601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377064756	chr4:9904606-9904607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541322919	chr4:9904613-9904614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148279060	chr4:9904638-9904639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574616641	chr4:9904697-9904698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556236638	chr4:9904703-9904704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75477467	chr4:9904714-9904715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563332779	chr4:9904732-9904733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150299850	chr4:9904733-9904734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185587884	chr4:9904773-9904774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369825708	chr4:9904794-9904795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543370849	chr4:9904798-9904799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114212289	chr4:9904816-9904817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564938645	chr4:9904827-9904828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112848581	chr4:9904835-9904836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137913037	chr4:9904837-9904838	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190437338	chr4:9904881-9904882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35134320	chr4:9904885-9904886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59220173	chr4:9904898-9904899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192940971	chr4:9904963-9904964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574601295	chr4:9904969-9904970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111948121	chr4:9905017-9905018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569735544	chr4:9905055-9905056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577711315	chr4:9905069-9905070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374547093	chr4:9905147-9905148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115989677	chr4:9905214-9905215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142455329	chr4:9905252-9905253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377615729	chr4:9905297-9905298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370987521	chr4:9905375-9905376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541576351	chr4:9905408-9905409	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111875821	chr4:9905412-9905413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113140947	chr4:9905428-9905429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570476653	chr4:9905475-9905476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13128821	chr4:9905540-9905541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575388815	chr4:9905605-9905606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546061204	chr4:9905621-9905622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13140813	chr4:9905767-9905768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574525042	chr4:9905819-9905820	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535610355	chr4:9905873-9905874	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13141026	chr4:9905874-9905875	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556747559	chr4:9905883-9905884	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139678947	chr4:9905955-9905956	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543556593	chr4:9905971-9905972	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564926309	chr4:9905972-9905973	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577201022	chr4:9905981-9905982	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541338269	chr4:9905984-9905985	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117301982	chr4:9906016-9906017	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9888800-9905800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:9889000-9906200	Weak transcription	Liver	Liver
3	chr4:9890600-9905600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:9894000-9917800	Weak transcription	Lung	lung
5	chr4:9895800-9906800	Weak transcription	Right Atrium	heart
6	chr4:9897000-9924600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:9900400-9911000	Weak transcription	Aorta	Aorta
8	chr4:9901000-9910400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:9902000-9906800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:9902000-9907000	Weak transcription	Fetal Stomach	stomach
11	chr4:9902000-9909400	Weak transcription	Adipose Nuclei	Adipose
12	chr4:9902800-9910600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:9903200-9905800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:9903400-9923200	Strong transcription	HepG2	liver
15	chr4:9903600-9906400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:9903600-9906400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:9903600-9906400	Strong transcription	NHEK	skin
18	chr4:9903600-9908000	Strong transcription	Fetal Intestine Small	intestine
19	chr4:9903600-9916000	Strong transcription	Fetal Intestine Large	intestine
20	chr4:9903600-9928600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr4:9903600-9929000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:9904200-9906400	Strong transcription	HMEC	breast
23	chr4:9905600-9908000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:9905800-9907400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:9905800-9909000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:9906000-9910400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:9906000-9912800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:9906200-9910200	Strong transcription	Liver	Liver
29	chr4:9906400-9907400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:9906400-9907400	Genic enhancers	HMEC	breast
31	chr4:9906400-9907600	Genic enhancers	NHEK	skin
32	chr4:9906400-9907800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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