Variant report

Variant	nsv594137
Chromosome Location	chr4:48748305-48763163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48753245..48755972-chr4:48780060..48782749,2	MCF-7	breast:
2	chr4:48749888..48752045-chr4:48754340..48756455,2	K562	blood:
3	chr4:48763131..48767010-chr4:48780042..48783198,3	K562	blood:
4	chr4:48746546..48749317-chr4:48834031..48835783,2	K562	blood:
5	chr4:48751207..48753110-chr4:48754694..48756381,2	MCF-7	breast:
6	chr4:48750427..48752045-chr4:48754955..48756495,2	K562	blood:
7	chr4:48750427..48752045-chr4:48754955..48756495,2	K562	blood:
8	chr4:48756947..48759205-chr4:48760988..48763771,2	MCF-7	breast:
9	chr4:48749888..48752045-chr4:48754340..48756455,2	K562	blood:
10	chr4:48756947..48759205-chr4:48760988..48763771,2	MCF-7	breast:
11	chr4:48751207..48753110-chr4:48754694..48756381,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075539	chromatin interactions

Extended variants
information (count: 553 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539169781	chr4:48748305-48748306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547001399	chr4:48748306-48748307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193041555	chr4:48748321-48748322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183327601	chr4:48748322-48748323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4235159	chr4:48748350-48748351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569069914	chr4:48748354-48748355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575960644	chr4:48748357-48748358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564066516	chr4:48748359-48748360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113500318	chr4:48748366-48748367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536485389	chr4:48748418-48748419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187897136	chr4:48748430-48748431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572921276	chr4:48748438-48748439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533525130	chr4:48748494-48748495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558148272	chr4:48748511-48748512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577877259	chr4:48748527-48748528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543708470	chr4:48748536-48748537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545301909	chr4:48748557-48748558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201141238	chr4:48748558-48748559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6815016	chr4:48748561-48748562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563687332	chr4:48748571-48748572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75943469	chr4:48748574-48748575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369357873	chr4:48748576-48748577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191197583	chr4:48748656-48748657	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543240011	chr4:48748726-48748727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561206025	chr4:48748763-48748764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183794810	chr4:48748774-48748775	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147555902	chr4:48748805-48748806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142315283	chr4:48748906-48748907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114875150	chr4:48748915-48748916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12648498	chr4:48748962-48748963	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550884477	chr4:48749014-48749015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12648502	chr4:48749022-48749023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569206935	chr4:48749080-48749081	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1554258	chr4:48749117-48749118	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs548385599	chr4:48749139-48749140	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566409098	chr4:48749147-48749148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77359604	chr4:48749179-48749180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs35461277	chr4:48749180-48749181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs542627179	chr4:48749184-48749185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs72599347	chr4:48749186-48749187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs5858127	chr4:48749187-48749188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111231604	chr4:48749188-48749189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189533285	chr4:48749207-48749208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551817439	chr4:48749230-48749231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558085086	chr4:48749231-48749232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569957854	chr4:48749344-48749345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537490813	chr4:48749370-48749371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557217661	chr4:48749400-48749401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192937358	chr4:48749489-48749490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527925464	chr4:48749501-48749502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48731600-48751000	Weak transcription	Lung	lung
2	chr4:48731600-48779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48741000-48751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:48742000-48758800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:48742000-48768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:48742600-48751200	Weak transcription	Esophagus	oesophagus
7	chr4:48742600-48768200	Weak transcription	Pancreas	Pancrea
8	chr4:48742800-48753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:48743000-48748600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:48743000-48748600	Weak transcription	Liver	Liver
11	chr4:48743200-48748600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:48743200-48748600	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:48743200-48748800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:48744200-48749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:48744400-48749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:48744400-48750400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:48744600-48748600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:48744600-48748600	Weak transcription	Gastric	stomach
19	chr4:48744600-48748600	Weak transcription	Thymus	Thymus
20	chr4:48744600-48748600	Weak transcription	HMEC	breast
21	chr4:48744600-48748600	Weak transcription	K562	blood
22	chr4:48744600-48748800	Weak transcription	Brain Angular Gyrus	brain
23	chr4:48744600-48750400	Weak transcription	Right Ventricle	heart
24	chr4:48744600-48751200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:48744600-48752800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:48744600-48753000	Weak transcription	Osteobl	bone
27	chr4:48744800-48748800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:48744800-48749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:48744800-48750800	Weak transcription	Fetal Heart	heart
30	chr4:48744800-48753600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:48745000-48748600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:48745000-48750000	Weak transcription	Psoas Muscle	Psoas
33	chr4:48745000-48750600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:48745000-48751200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:48745000-48751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:48745000-48765200	Weak transcription	Primary B cells from cord blood	blood
37	chr4:48745200-48748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:48745200-48749200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:48745600-48748600	Weak transcription	Primary T cells from cord blood	blood
40	chr4:48745800-48748800	Weak transcription	Dnd41	blood
41	chr4:48746000-48748600	Weak transcription	Aorta	Aorta
42	chr4:48746600-48748600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:48746800-48748600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:48746800-48751200	Weak transcription	GM12878-XiMat	blood
45	chr4:48747000-48748600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:48747000-48748600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr4:48747000-48748800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:48747000-48748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:48747200-48748600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:48747200-48751400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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