Variant report

Variant	nsv437443
Chromosome Location	chr4:151871473-151884313
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
2	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
3	chr4:151870335..151873445-chr4:152019879..152022004,3	K562	blood:
4	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
5	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
6	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
7	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
8	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
9	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
10	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145425	chromatin interactions
ENSG00000198589	chromatin interactions

Extended variants
information (count: 486 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:486 , 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	rs1201210	chr4:151871473-151871474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570050968	chr4:151871480-151871481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538927008	chr4:151871496-151871497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558776697	chr4:151871523-151871524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572298555	chr4:151871524-151871525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182805670	chr4:151871556-151871557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554769512	chr4:151871558-151871559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574850181	chr4:151871624-151871625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370071104	chr4:151871663-151871664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543468557	chr4:151871679-151871680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563649997	chr4:151871725-151871726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs202022574	chr4:151871726-151871727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397822148	chr4:151871738-151871739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540704486	chr4:151871773-151871774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532494553	chr4:151871776-151871777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546109428	chr4:151871870-151871871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565310012	chr4:151871887-151871888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201940728	chr4:151871893-151871894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559645894	chr4:151871901-151871902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532525611	chr4:151871909-151871910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186088119	chr4:151871941-151871942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548335026	chr4:151871960-151871961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149437918	chr4:151871965-151871966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147138961	chr4:151872003-151872004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34761000	chr4:151872009-151872010	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563596237	chr4:151872046-151872047	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72721704	chr4:151872053-151872054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548776672	chr4:151872061-151872062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570111527	chr4:151872094-151872095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138690076	chr4:151872109-151872110	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552462729	chr4:151872161-151872162	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373297986	chr4:151872181-151872182	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538692302	chr4:151872196-151872197	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183969853	chr4:151872298-151872299	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574863611	chr4:151872341-151872342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7655153	chr4:151872367-151872368	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557432249	chr4:151872375-151872376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577318687	chr4:151872437-151872438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546170002	chr4:151872463-151872464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74355484	chr4:151872465-151872466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187261754	chr4:151872468-151872469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541690967	chr4:151872482-151872483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12501829	chr4:151872524-151872525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs80132906	chr4:151872526-151872527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75055977	chr4:151872527-151872528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530567911	chr4:151872543-151872544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147567690	chr4:151872557-151872558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192136879	chr4:151872614-151872615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182382663	chr4:151872705-151872706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187013243	chr4:151872707-151872708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
2	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
3	chr4:151846400-151873800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:151849400-151878000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151850200-151873800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
7	chr4:151860800-151879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:151861000-151878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:151861600-151872200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:151861800-151871800	Weak transcription	Primary T cells from cord blood	blood
11	chr4:151865200-151882000	Weak transcription	Ovary	ovary
12	chr4:151865200-151883400	Weak transcription	Gastric	stomach
13	chr4:151865400-151879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:151866800-151871800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:151866800-151871800	Weak transcription	K562	blood
16	chr4:151867600-151873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:151868800-151871800	Weak transcription	Liver	Liver
18	chr4:151869000-151871600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:151869000-151873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:151869000-151873200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:151869600-151871800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:151869600-151871800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:151870800-151872400	Enhancers	Stomach Mucosa	stomach
24	chr4:151870800-151872800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:151871000-151872000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:151871200-151872000	Enhancers	GM12878-XiMat	blood
27	chr4:151871200-151872400	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:151871200-151872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:151871200-151872400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:151871200-151872400	Enhancers	Fetal Heart	heart
31	chr4:151871200-151872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:151871200-151873400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:151871400-151872200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:151871400-151872200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:151871400-151872400	Enhancers	A549	lung
36	chr4:151871600-151872200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:151871600-151872400	Enhancers	HSMMtube	muscle
38	chr4:151871600-151872400	Enhancers	HUVEC	blood vessel
39	chr4:151871800-151872200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:151871800-151872200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:151871800-151872200	Enhancers	Small Intestine	intestine
42	chr4:151871800-151872400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:151871800-151872400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:151871800-151872400	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:151871800-151872400	Enhancers	Primary T cells from cord blood	blood
46	chr4:151871800-151872400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:151871800-151872400	Enhancers	Liver	Liver
48	chr4:151871800-151872400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr4:151871800-151872400	Enhancers	HepG2	liver
50	chr4:151871800-151872400	Enhancers	HMEC	breast

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