Variant report

Variant	esv1800463
Chromosome Location	chr4:9895665-9899621
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	chr4:9898528..9900449-chr4:10019179..10021130,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109667	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139429508	chr4:9895677-9895678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529534518	chr4:9895690-9895691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185049503	chr4:9895694-9895695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560875486	chr4:9895710-9895711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562628804	chr4:9895764-9895765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532906272	chr4:9895789-9895790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4697693	chr4:9895860-9895861	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566138742	chr4:9895931-9895932	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533789565	chr4:9895977-9895978	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147578925	chr4:9895986-9895987	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567337862	chr4:9896040-9896041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139520814	chr4:9896042-9896043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150023468	chr4:9896052-9896053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549414497	chr4:9896067-9896068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36042284	chr4:9896085-9896086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145345396	chr4:9896104-9896105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539949119	chr4:9896113-9896114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558137636	chr4:9896120-9896121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149202150	chr4:9896153-9896154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540922334	chr4:9896159-9896160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562440455	chr4:9896193-9896194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574132447	chr4:9896214-9896215	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561326504	chr4:9896248-9896249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544761411	chr4:9896258-9896259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531843796	chr4:9896266-9896267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10939605	chr4:9896293-9896294	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368613205	chr4:9896361-9896362	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114947425	chr4:9896363-9896364	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559714111	chr4:9896396-9896397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527328238	chr4:9896456-9896457	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548847937	chr4:9896465-9896466	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567578760	chr4:9896491-9896492	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34269125	chr4:9896496-9896497	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569100572	chr4:9896534-9896535	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78755014	chr4:9896571-9896572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145154883	chr4:9896609-9896610	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571356463	chr4:9896621-9896622	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146887192	chr4:9896634-9896635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4697694	chr4:9896642-9896643	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566859028	chr4:9896663-9896664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534215462	chr4:9896669-9896670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555502705	chr4:9896673-9896674	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574239112	chr4:9896678-9896679	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544584538	chr4:9896730-9896731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6449097	chr4:9896734-9896735	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113058127	chr4:9896741-9896742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79687993	chr4:9896742-9896743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4697909	chr4:9896760-9896761	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527271127	chr4:9896770-9896771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140482001	chr4:9896802-9896803	Weak transcription Enhancers	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9882600-9903600	Weak transcription	Fetal Intestine Large	intestine
2	chr4:9888800-9905800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:9889000-9906200	Weak transcription	Liver	Liver
4	chr4:9890600-9905600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:9892200-9903600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:9892800-9903600	Weak transcription	NHEK	skin
7	chr4:9893400-9897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:9893400-9900200	Weak transcription	HMEC	breast
9	chr4:9893800-9899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:9894000-9897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:9894000-9917800	Weak transcription	Lung	lung
12	chr4:9894200-9897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:9894600-9896200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:9894800-9903400	Weak transcription	HepG2	liver
15	chr4:9895000-9895800	Enhancers	Right Atrium	heart
16	chr4:9895400-9895800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:9895600-9896800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:9895800-9896000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:9895800-9896800	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:9895800-9906800	Weak transcription	Right Atrium	heart
21	chr4:9896200-9897400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:9896400-9896600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:9896800-9897000	Enhancers	Fetal Muscle Leg	muscle
24	chr4:9896800-9897000	Enhancers	GM12878-XiMat	blood
25	chr4:9896800-9898000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:9897000-9924600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:9897400-9898400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:9897600-9898800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:9897600-9899800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:9898000-9902000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:9898400-9899800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:9898800-9899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:9899400-9902200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:9899400-9902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:9899600-9899800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:9899600-9899800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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