Variant report

Variant	esv3692819
Chromosome Location	chr4:48875926-48887608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48862851..48865784-chr4:48884723..48887077,2	MCF-7	breast:
2	chr4:48781205..48783525-chr4:48879883..48882783,2	MCF-7	breast:
3	chr4:48780562..48783148-chr4:48877273..48880110,3	MCF-7	breast:
4	chr4:48833159..48834706-chr4:48878126..48880234,3	K562	blood:
5	chr4:48832600..48834706-chr4:48878011..48879626,2	K562	blood:

Variant related genes	Relation type
ENSG00000075539	chromatin interactions
ENSG00000109180	chromatin interactions

Extended variants
information (count: 458 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7687992	chr4:48875926-48875927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560860261	chr4:48876012-48876013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181225123	chr4:48876054-48876055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573922285	chr4:48876086-48876087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147084505	chr4:48876087-48876088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201178302	chr4:48876155-48876156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71660460	chr4:48876162-48876163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7693051	chr4:48876163-48876164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200176692	chr4:48876165-48876166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201430859	chr4:48876167-48876168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139317312	chr4:48876175-48876176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3031297	chr4:48876202-48876203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58322607	chr4:48876203-48876204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3031298	chr4:48876204-48876205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559521410	chr4:48876208-48876209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577845121	chr4:48876228-48876229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553117425	chr4:48876249-48876250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2354944	chr4:48876323-48876324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs184915567	chr4:48876382-48876383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115227189	chr4:48876397-48876398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140775648	chr4:48876421-48876422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561061683	chr4:48876432-48876433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190204013	chr4:48876461-48876462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546561663	chr4:48876495-48876496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555435965	chr4:48876496-48876497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375526709	chr4:48876605-48876606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181712973	chr4:48876621-48876622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551700247	chr4:48876630-48876631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528170845	chr4:48876640-48876641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150098876	chr4:48876650-48876651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369252763	chr4:48876697-48876698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572807467	chr4:48876720-48876721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555405276	chr4:48876734-48876735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567731589	chr4:48876751-48876752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74690687	chr4:48876811-48876812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572950233	chr4:48876889-48876890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533817407	chr4:48876908-48876909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115528043	chr4:48876957-48876958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577990090	chr4:48876965-48876966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186077294	chr4:48876978-48876979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190925396	chr4:48876993-48876994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180717288	chr4:48877059-48877060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375872846	chr4:48877066-48877067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542861574	chr4:48877133-48877134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560962286	chr4:48877275-48877276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528169280	chr4:48877330-48877331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540002510	chr4:48877352-48877353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564891031	chr4:48877401-48877402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368833732	chr4:48877422-48877423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531981540	chr4:48877447-48877448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48848200-48880000	Weak transcription	Brain Substantia Nigra	brain
2	chr4:48860400-48882200	Weak transcription	Gastric	stomach
3	chr4:48860400-48901400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:48860800-48892000	Weak transcription	Thymus	Thymus
5	chr4:48860800-48892800	Weak transcription	Aorta	Aorta
6	chr4:48860800-48892800	Weak transcription	Left Ventricle	heart
7	chr4:48860800-48895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:48860800-48895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:48863600-48892000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:48873200-48892000	Weak transcription	Primary T cells from cord blood	blood
11	chr4:48874000-48893600	Weak transcription	Pancreas	Pancrea
12	chr4:48875000-48892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:48877400-48891800	Weak transcription	Fetal Brain Female	brain
14	chr4:48877800-48897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:48878800-48879600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:48879000-48880600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:48879000-48880600	Enhancers	NHEK	skin
18	chr4:48879200-48879400	Enhancers	Right Ventricle	heart
19	chr4:48879200-48880400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:48879200-48880600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:48879200-48880600	Enhancers	HMEC	breast
22	chr4:48879400-48879800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48879400-48880600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:48879400-48907800	Weak transcription	Right Ventricle	heart
25	chr4:48879600-48879800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:48879800-48880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:48880000-48880400	Enhancers	Brain Substantia Nigra	brain
28	chr4:48880000-48880600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:48880200-48880400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:48880200-48880600	Enhancers	Placenta	Placenta
31	chr4:48880400-48887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:48880400-48892800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:48880600-48882000	Weak transcription	Placenta	Placenta
34	chr4:48880600-48894800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:48882000-48882200	Enhancers	Placenta	Placenta
36	chr4:48882200-48887600	Weak transcription	Placenta	Placenta
37	chr4:48882200-48892400	Weak transcription	Primary B cells from cord blood	blood
38	chr4:48884800-48891800	Weak transcription	Fetal Thymus	thymus
39	chr4:48885000-48892600	Weak transcription	Dnd41	blood
40	chr4:48885600-48891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:48886000-48892000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:48886200-48892000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:48887000-48887200	Enhancers	Esophagus	oesophagus
44	chr4:48887000-48887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:48887000-48887800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:48887200-48887800	Enhancers	HMEC	breast
47	chr4:48887200-48888000	Enhancers	NHEK	skin
48	chr4:48887200-48904200	Weak transcription	Esophagus	oesophagus
49	chr4:48887400-48893200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:48887600-48887800	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links