Variant report

Variant	nsv980436
Chromosome Location	chr4:173005588-173060038
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:173021131..173023311-chr4:173023529..173025605,2	K562	blood:
2	chr4:173007639..173009652-chr4:173056667..173058243,2	K562	blood:
3	chr4:173044514..173046349-chr4:173049744..173052591,2	MCF-7	breast:
4	chr4:173046006..173047679-chr4:173063053..173065113,2	K562	blood:
5	chr4:173058370..173063602-chr4:173075160..173078054,5	K562	blood:
6	chr4:173048642..173050883-chr4:173054945..173057723,2	K562	blood:
7	chr4:173021211..173023179-chr4:173025772..173028444,2	K562	blood:
8	chr4:173054515..173056171-chr4:173071383..173073439,2	K562	blood:
9	chr4:173041762..173043702-chr4:174254052..174255780,2	K562	blood:
10	chr4:173021211..173023179-chr4:173025772..173028444,2	K562	blood:
11	chr4:173054726..173056250-chr4:173057135..173060133,2	K562	blood:
12	chr4:173013361..173016115-chr4:173021036..173022697,2	K562	blood:
13	chr4:173054726..173056250-chr4:173057135..173060133,2	K562	blood:
14	chr4:173007639..173009652-chr4:173056667..173058243,2	K562	blood:
15	chr4:173056031..173059161-chr4:173060875..173063666,4	K562	blood:
16	chr4:173049353..173051356-chr4:173063889..173066410,2	K562	blood:
17	chr4:173054623..173059133-chr4:173061715..173065707,6	K562	blood:
18	chr4:173025369..173026870-chr4:173057043..173059254,2	K562	blood:
19	chr4:173013361..173016115-chr4:173021036..173022697,2	K562	blood:
20	chr4:173050637..173053046-chr4:173107907..173109625,2	MCF-7	breast:
21	chr4:173037881..173039662-chr4:173039698..173041444,2	K562	blood:
22	chr4:173048642..173050883-chr4:173054945..173057723,2	K562	blood:
23	chr4:173056383..173058411-chr4:173071625..173074277,2	K562	blood:
24	chr4:173021131..173023311-chr4:173023529..173025605,2	K562	blood:
25	chr4:173037881..173039662-chr4:173039698..173041444,2	K562	blood:
26	chr4:173044514..173046349-chr4:173049744..173052591,2	MCF-7	breast:
27	chr4:173025369..173026870-chr4:173057043..173059254,2	K562	blood:
28	chr4:173053655..173055804-chr4:173057381..173059355,2	K562	blood:
29	chr4:173053655..173055804-chr4:173057381..173059355,2	K562	blood:
30	chr4:173050386..173053411-chr4:173069490..173071981,3	K562	blood:
31	chr4:173044765..173047088-chr4:173079420..173082329,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164104	chromatin interactions

Extended variants
information (count: 781 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527596484	chr4:173016421-173016422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188890867	chr4:173016431-173016432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181687869	chr4:173016446-173016447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115056294	chr4:173016469-173016470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58075208	chr4:173016476-173016477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570162535	chr4:173016494-173016495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538744273	chr4:173016522-173016523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17058045	chr4:173016533-173016534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566054343	chr4:173016546-173016547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145211078	chr4:173016578-173016579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555259347	chr4:173016616-173016617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202011123	chr4:173016695-173016696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575174302	chr4:173016706-173016707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183895069	chr4:173016709-173016710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140333191	chr4:173016825-173016826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377483017	chr4:173016827-173016828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557251396	chr4:173016828-173016829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576121320	chr4:173016854-173016855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189722380	chr4:173016871-173016872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181445078	chr4:173016884-173016885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185839394	chr4:173016938-173016939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6852572	chr4:173016963-173016964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377539081	chr4:173016968-173016969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10780086	chr4:173016974-173016975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555852892	chr4:173016988-173016989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78994433	chr4:173018019-173018020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186564741	chr4:173018050-173018051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377452855	chr4:173018057-173018058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532165903	chr4:173018074-173018075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545751583	chr4:173018077-173018078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546009569	chr4:173018122-173018123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562817901	chr4:173018181-173018182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74828934	chr4:173018254-173018255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72990327	chr4:173018288-173018289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190627573	chr4:173018309-173018310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183137775	chr4:173018334-173018335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531256758	chr4:173018336-173018337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550945029	chr4:173018357-173018358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187110091	chr4:173018372-173018373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116833789	chr4:173018397-173018398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371445962	chr4:173018425-173018426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553131198	chr4:173018506-173018507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78013400	chr4:173018531-173018532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79165001	chr4:173018532-173018533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116617226	chr4:173018540-173018541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543711875	chr4:173018559-173018560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557012727	chr4:173018582-173018583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577063387	chr4:173018595-173018596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147448928	chr4:173018610-173018611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139883268	chr4:173018611-173018612	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173016400-173016800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:173016600-173017000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:173018000-173019000	Enhancers	Aorta	Aorta
4	chr4:173018200-173018800	Enhancers	Fetal Brain Male	brain
5	chr4:173018400-173018600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:173018400-173019200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:173018800-173019800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:173019800-173021600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:173020000-173020600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:173026000-173026200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:173030600-173031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:173042200-173043400	Weak transcription	K562	blood
13	chr4:173043400-173043600	Genic enhancers	K562	blood
14	chr4:173043600-173052800	Weak transcription	K562	blood
15	chr4:173045800-173047800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:173046000-173046400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:173046000-173046800	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:173046000-173047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:173046800-173047600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:173047600-173047800	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:173049800-173050200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:173050200-173052800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:173050800-173051400	Enhancers	NHDF-Ad	bronchial
24	chr4:173051000-173052200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:173051400-173062800	Weak transcription	NHDF-Ad	bronchial
26	chr4:173052200-173053600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:173052800-173053000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:173052800-173053600	Enhancers	NH-A	brain
29	chr4:173052800-173053800	Enhancers	Fetal Brain Male	brain
30	chr4:173052800-173054800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:173053200-173054200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:173053600-173053800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:173053600-173055800	Weak transcription	NH-A	brain
34	chr4:173053800-173054200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:173054200-173054400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:173054200-173054600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:173054400-173055600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:173054600-173055800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:173054800-173061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:173055600-173056200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:173055800-173056200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:173055800-173056200	Enhancers	NH-A	brain
43	chr4:173058600-173058800	Enhancers	Brain Hippocampus Middle	brain
44	chr4:173058800-173059000	Enhancers	Brain Angular Gyrus	brain
45	chr4:173058800-173059200	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:173058800-173059200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr4:173058800-173059200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:173058800-173059200	Enhancers	Brain Substantia Nigra	brain
49	chr4:173058800-173059400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:173059000-173059200	Flanking Active TSS	Brain Angular Gyrus	brain

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