Variant report

Variant	nsv880175
Chromosome Location	chr4:143779613-143892252
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:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143847589..143849714-chr4:144104307..144107096,2	K562	blood:
2	chr4:143863874..143866091-chr4:143870252..143871994,2	MCF-7	breast:
3	chr4:143804340..143805239-chr4:143946331..143947512,3	MCF-7	breast:
4	chr4:143804603..143805356-chr4:144006149..144006825,3	MCF-7	breast:
5	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:
6	chr4:143777512..143779890-chr4:144104610..144106802,2	MCF-7	breast:
7	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:
8	chr4:143845292..143846837-chr4:143847161..143849163,2	MCF-7	breast:
9	chr4:143881105..143883700-chr4:144027796..144029991,2	MCF-7	breast:
10	chr4:143803402..143804305-chr4:143946373..143947084,2	MCF-7	breast:
11	chr4:143863874..143866091-chr4:143870252..143871994,2	MCF-7	breast:
12	chr4:143766691..143769165-chr4:143778080..143780463,3	MCF-7	breast:
13	chr4:143845292..143846837-chr4:143847161..143849163,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INPP4B-1	chr4:143837531-143837941	XLOC_004105
2	lnc-INPP4B-2	chr4:143854348-143854415	ENSG00000250326.1
3	lnc-INPP4B-2	chr4:143861242-143861398	ENSG00000250326.1
4	lnc-INPP4B-1	chr4:143839745-143839844	XLOC_004105

No data

Variant related genes	Relation type
ENSG00000250326	chromatin interactions
ENSG00000170185	chromatin interactions
ENSG00000109452	chromatin interactions
RNF141	miRNA target sites
NR3C2	miRNA target sites

Extended variants
information (count: 2880 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2880 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6537129	chr4:143779613-143779614	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs59276950	chr4:143779614-143779615	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs111979127	chr4:143779634-143779635	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113809838	chr4:143779675-143779676	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574489770	chr4:143779696-143779697	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541518094	chr4:143779714-143779715	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111291500	chr4:143779743-143779744	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs531987218	chr4:143779755-143779756	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs186836734	chr4:143779764-143779765	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34077043	chr4:143779784-143779785	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs529954385	chr4:143779833-143779834	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs140601578	chr4:143779873-143779874	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532669116	chr4:143779921-143779922	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547787583	chr4:143779927-143779928	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548399694	chr4:143779948-143779949	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565896807	chr4:143779958-143779959	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150615926	chr4:143779968-143779969	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9684850	chr4:143780055-143780056	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530216304	chr4:143780071-143780072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191769584	chr4:143780116-143780117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556195226	chr4:143780130-143780131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184159181	chr4:143780166-143780167	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546210625	chr4:143780202-143780203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551931251	chr4:143780236-143780237	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6537130	chr4:143780279-143780280	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114633286	chr4:143780289-143780290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150404077	chr4:143780301-143780302	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527769962	chr4:143780316-143780317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138121293	chr4:143780324-143780325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552304107	chr4:143780334-143780335	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112868321	chr4:143780363-143780364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535425882	chr4:143780467-143780468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371131848	chr4:143780472-143780473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570797529	chr4:143780485-143780486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557130693	chr4:143780505-143780506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149169698	chr4:143780573-143780574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146502054	chr4:143780584-143780585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189580868	chr4:143780675-143780676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538164954	chr4:143780678-143780679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543351850	chr4:143780738-143780739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541317638	chr4:143780745-143780746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556856767	chr4:143780758-143780759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193054621	chr4:143780766-143780767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530081608	chr4:143780786-143780787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139118088	chr4:143780814-143780815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78410199	chr4:143780830-143780831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185865079	chr4:143780933-143780934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557947526	chr4:143780964-143780965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189957368	chr4:143781037-143781038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142827006	chr4:143781058-143781059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143768600-143781200	Weak transcription	Psoas Muscle	Psoas
2	chr4:143779000-143780800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:143779600-143780000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:143779600-143780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:143780000-143780400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:143780400-143782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:143780800-143782000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:143782000-143782600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:143782400-143782800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143787200-143788200	Enhancers	Fetal Heart	heart
11	chr4:143787600-143788200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:143787800-143788200	Enhancers	Left Ventricle	heart
13	chr4:143787800-143788800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:143788600-143788800	ZNF genes & repeats	Aorta	Aorta
15	chr4:143788800-143791200	Weak transcription	Aorta	Aorta
16	chr4:143793800-143794400	Enhancers	Osteobl	bone
17	chr4:143794000-143794400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:143794000-143795000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:143794400-143794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:143794800-143795000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:143795000-143796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:143796600-143798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:143797200-143797400	Enhancers	Osteobl	bone
24	chr4:143802400-143802800	Enhancers	NHEK	skin
25	chr4:143802400-143803000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:143807600-143808000	Enhancers	Fetal Muscle Leg	muscle
27	chr4:143807600-143808200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:143807600-143808200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:143807600-143808400	Enhancers	Placenta	Placenta
30	chr4:143807800-143808200	Enhancers	Fetal Heart	heart
31	chr4:143814600-143815200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:143818000-143821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:143821400-143822000	Enhancers	Fetal Muscle Trunk	muscle
34	chr4:143821400-143822600	Enhancers	Fetal Stomach	stomach
35	chr4:143821800-143822000	Enhancers	Right Atrium	heart
36	chr4:143821800-143822000	ZNF genes & repeats	Spleen	Spleen
37	chr4:143821800-143822200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:143821800-143823200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:143822000-143822200	Enhancers	Spleen	Spleen
40	chr4:143822200-143822600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:143822200-143822600	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:143822400-143822600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:143822600-143831200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:143823000-143823200	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:143829800-143830000	Enhancers	Aorta	Aorta
46	chr4:143830000-143832800	Weak transcription	Aorta	Aorta
47	chr4:143830400-143830800	Enhancers	Fetal Muscle Leg	muscle
48	chr4:143831200-143831400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr4:143831200-143831400	Flanking Active TSS	HSMMtube	muscle
50	chr4:143831200-143831600	Enhancers	Colon Smooth Muscle	Colon

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