Variant report

Variant	nsv880497
Chromosome Location	chr4:175513812-175556222
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175547041..175549414-chr4:175550362..175552993,2	K562	blood:
2	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
3	chr4:175521782..175524455-chr4:175541402..175543180,2	K562	blood:
4	chr4:175515804..175518399-chr4:175522390..175524783,2	K562	blood:
5	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
6	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:
7	chr4:175521782..175524455-chr4:175541402..175543180,2	K562	blood:
8	chr4:175553006..175553908-chr4:175635224..175636171,3	MCF-7	breast:
9	chr4:175554212..175556031-chr4:175556828..175559227,2	K562	blood:
10	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:
11	chr4:175520125..175523086-chr4:175535315..175537351,2	MCF-7	breast:
12	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
13	chr4:175533943..175535953-chr4:175558872..175561336,2	K562	blood:
14	chr4:175547041..175549414-chr4:175550362..175552993,2	K562	blood:
15	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
16	chr4:175246118..175249047-chr4:175551660..175553863,2	K562	blood:

No data

Extended variants
information (count: 1426 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2555671	chr4:175513812-175513813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528387533	chr4:175513822-175513823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145005413	chr4:175513923-175513924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185675186	chr4:175513938-175513939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530087684	chr4:175513963-175513964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550133622	chr4:175513968-175513969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149102469	chr4:175513981-175513982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575674848	chr4:175513989-175513990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202034704	chr4:175514023-175514024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143507158	chr4:175514049-175514050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541412394	chr4:175514051-175514052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552819497	chr4:175514056-175514057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73867647	chr4:175514099-175514100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535338741	chr4:175514126-175514127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562074035	chr4:175514164-175514165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555345300	chr4:175514192-175514193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2555670	chr4:175514193-175514194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190183388	chr4:175514210-175514211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528001932	chr4:175514244-175514245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114045484	chr4:175514298-175514299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576888028	chr4:175514330-175514331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545458841	chr4:175514381-175514382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116194808	chr4:175514415-175514416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs572654763	chr4:175514445-175514446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541621316	chr4:175514545-175514546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112567878	chr4:175514585-175514586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79138527	chr4:175514647-175514648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182403311	chr4:175514672-175514673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564712783	chr4:175514677-175514678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543472600	chr4:175514739-175514740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187703128	chr4:175514745-175514746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532506810	chr4:175514755-175514756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146540354	chr4:175514772-175514773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533318337	chr4:175514775-175514776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566172961	chr4:175514883-175514884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11733443	chr4:175514914-175514915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs192713737	chr4:175514984-175514985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146788712	chr4:175515011-175515012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568690891	chr4:175515074-175515075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537723239	chr4:175515077-175515078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116665479	chr4:175515101-175515102	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570387408	chr4:175515110-175515111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539150677	chr4:175515142-175515143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552697905	chr4:175515144-175515145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79354038	chr4:175515209-175515210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184073258	chr4:175515252-175515253	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555509729	chr4:175515256-175515257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368713668	chr4:175515269-175515270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546618427	chr4:175515283-175515284	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566042569	chr4:175515288-175515289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175511600-175515600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr4:175512000-175515600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:175512000-175516200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:175512200-175514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:175512400-175514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:175512600-175514200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:175512800-175514200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:175513000-175514200	Enhancers	Primary B cells from cord blood	blood
9	chr4:175513000-175514200	Weak transcription	K562	blood
10	chr4:175513000-175514800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:175513000-175515000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:175513000-175515200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr4:175513200-175517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:175513400-175514800	Enhancers	NHDF-Ad	bronchial
15	chr4:175513600-175514400	Weak transcription	Stomach Mucosa	stomach
16	chr4:175513800-175514200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:175514200-175514600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:175514200-175514600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:175514200-175514600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:175514200-175514600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:175514200-175514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:175514200-175514600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:175514200-175514600	Enhancers	K562	blood
24	chr4:175514200-175514800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:175514200-175514800	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:175514200-175515400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:175514400-175514600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:175514400-175514600	Enhancers	Stomach Mucosa	stomach
29	chr4:175514600-175515000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:175514600-175516800	Weak transcription	Stomach Mucosa	stomach
31	chr4:175514800-175516400	Weak transcription	NHDF-Ad	bronchial
32	chr4:175515000-175516600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:175515400-175515600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:175515600-175516600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:175516200-175516400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:175516200-175516600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:175516400-175516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:175516400-175517200	Enhancers	NHDF-Ad	bronchial
39	chr4:175516600-175516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:175516600-175517000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:175517200-175521400	Weak transcription	NHDF-Ad	bronchial
42	chr4:175517600-175518600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:175518600-175521800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:175519600-175520400	Enhancers	Colon Smooth Muscle	Colon
45	chr4:175520000-175520200	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:175520200-175521400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:175520400-175524800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:175521400-175522000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:175521400-175522000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:175521400-175522000	Enhancers	Rectal Smooth Muscle	rectum

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