Variant report

Variant	esv3346056
Chromosome Location	chr4:9853144-9853466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557812493	chr4:9853189-9853190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74623241	chr4:9853193-9853194	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181291821	chr4:9853214-9853215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561749202	chr4:9853240-9853241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373697506	chr4:9853306-9853307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544912016	chr4:9853318-9853319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563068816	chr4:9853323-9853324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145231664	chr4:9853326-9853327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59107876	chr4:9853343-9853344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551728343	chr4:9853345-9853346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397746458	chr4:9853349-9853350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6832792	chr4:9853350-9853351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148747594	chr4:9853368-9853369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548960191	chr4:9853378-9853379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560947201	chr4:9853385-9853386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567288214	chr4:9853464-9853465	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
Sinonasal adenocarcinoma	21360264	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9845000-9874800	Weak transcription	NHEK	skin
2	chr4:9848600-9853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:9848600-9861800	Weak transcription	HMEC	breast
4	chr4:9850200-9858800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:9851200-9869800	Weak transcription	Gastric	stomach
6	chr4:9851400-9859000	Weak transcription	HepG2	liver
7	chr4:9851600-9857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:9852200-9858200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:9852400-9858400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:9852400-9858800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:9852800-9853200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:9853000-9854200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:9853200-9858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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