Variant report

Variant	esv3377378
Chromosome Location	chr4:9965881-9966346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146660439	chr4:9965891-9965892	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58238506	chr4:9965892-9965893	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397806460	chr4:9965896-9965897	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562109908	chr4:9965905-9965906	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145116311	chr4:9965928-9965929	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373237553	chr4:9965950-9965951	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189329033	chr4:9965971-9965972	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574172159	chr4:9965974-9965975	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6449171	chr4:9965998-9965999	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs563605953	chr4:9966006-9966007	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530839970	chr4:9966021-9966022	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562681889	chr4:9966022-9966023	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6449172	chr4:9966036-9966037	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115269518	chr4:9966037-9966038	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6449173	chr4:9966105-9966106	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181877951	chr4:9966116-9966117	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565936251	chr4:9966119-9966120	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149020917	chr4:9966132-9966133	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80072678	chr4:9966139-9966140	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569982393	chr4:9966166-9966167	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144609913	chr4:9966167-9966168	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537370811	chr4:9966191-9966192	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552308488	chr4:9966194-9966195	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373513304	chr4:9966213-9966214	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6847019	chr4:9966249-9966250	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138547806	chr4:9966274-9966275	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574332865	chr4:9966333-9966334	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552520941	chr4:9966345-9966346	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9911400-9979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:9944000-9979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:9949800-9979400	Weak transcription	Liver	Liver
4	chr4:9950000-9966600	Weak transcription	Psoas Muscle	Psoas
5	chr4:9958600-9984800	Weak transcription	Aorta	Aorta
6	chr4:9963400-9996400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:9964000-9966000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:9964000-9966800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:9964200-9966000	Strong transcription	NHEK	skin
10	chr4:9964200-9966600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:9964200-9967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:9964200-9967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:9964200-9968600	Strong transcription	Fetal Intestine Large	intestine
14	chr4:9964200-9986600	Weak transcription	Ovary	ovary
15	chr4:9964400-9968800	Strong transcription	HMEC	breast
16	chr4:9964400-9980800	Weak transcription	Esophagus	oesophagus
17	chr4:9964800-9966000	Strong transcription	Fetal Intestine Small	intestine
18	chr4:9964800-9979200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:9965200-9967000	Enhancers	Brain Germinal Matrix	brain
20	chr4:9965400-9971600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr4:9965600-9966200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:9965600-9966800	Genic enhancers	HepG2	liver
23	chr4:9965800-9966200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:9965800-9966800	Enhancers	Fetal Brain Male	brain
25	chr4:9965800-9969800	Weak transcription	GM12878-XiMat	blood
26	chr4:9966000-9966200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:9966000-9967600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:9966000-9969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:9966000-9971600	Weak transcription	NHEK	skin
30	chr4:9966200-9966800	Enhancers	Fetal Lung	lung

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