Variant report

Variant	nsv4531
Chromosome Location	chr4:144174573-144192930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144170301..144172472-chr4:144177727..144180370,2	K562	blood:
2	chr4:144153122..144155090-chr4:144182581..144184458,2	K562	blood:
3	chr4:144175749..144177348-chr4:144177529..144179744,2	K562	blood:
4	chr4:144175749..144177348-chr4:144177529..144179744,2	K562	blood:
5	chr4:144179114..144181854-chr4:144256791..144259363,2	MCF-7	breast:
6	chr4:144174297..144176225-chr4:144302327..144303950,2	K562	blood:
7	chr4:144191423..144193797-chr4:144202159..144203758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109458	chromatin interactions
ENSG00000178972	chromatin interactions

Extended variants
information (count: 572 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:572 , 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	rs985619	chr4:144174576-144174577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186604498	chr4:144174603-144174604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149559207	chr4:144174673-144174674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551620294	chr4:144174733-144174734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529900289	chr4:144174734-144174735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548544778	chr4:144174745-144174746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs300942	chr4:144174773-144174774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570032205	chr4:144174844-144174845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190722155	chr4:144174854-144174855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12499485	chr4:144174860-144174861	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182598316	chr4:144174870-144174871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144301818	chr4:144174906-144174907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111526730	chr4:144174929-144174930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185844418	chr4:144174935-144174936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534486278	chr4:144174936-144174937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536436734	chr4:144174956-144174957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554889057	chr4:144175025-144175026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570024740	chr4:144175034-144175035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537315170	chr4:144175038-144175039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189822359	chr4:144175105-144175106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143065331	chr4:144175106-144175107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113665687	chr4:144175115-144175116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147405117	chr4:144175134-144175135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574733811	chr4:144175151-144175152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542050383	chr4:144175152-144175153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187887089	chr4:144175202-144175203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530840223	chr4:144175246-144175247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571406203	chr4:144175260-144175261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376704283	chr4:144175301-144175302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115814709	chr4:144175326-144175327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74768606	chr4:144175375-144175376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553558101	chr4:144175376-144175377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75666662	chr4:144175379-144175380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546415929	chr4:144175390-144175391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193029336	chr4:144175422-144175423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184124773	chr4:144175425-144175426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73850696	chr4:144175471-144175472	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569889513	chr4:144175527-144175528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557033450	chr4:144175540-144175541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575912310	chr4:144175548-144175549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188279445	chr4:144175628-144175629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs202058841	chr4:144175688-144175689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139657724	chr4:144175690-144175691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570798615	chr4:144175725-144175726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192227994	chr4:144175788-144175789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553046287	chr4:144175806-144175807	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574995304	chr4:144175816-144175817	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78691251	chr4:144175819-144175820	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557214375	chr4:144175820-144175821	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575488267	chr4:144175855-144175856	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144171800-144174600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:144171800-144174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:144172000-144174800	Enhancers	HMEC	breast
4	chr4:144172200-144174800	Enhancers	NHEK	skin
5	chr4:144172600-144174600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:144172600-144174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:144172600-144176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:144172800-144175600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:144172800-144179800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:144172800-144184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:144173200-144174600	Enhancers	Osteobl	bone
12	chr4:144173600-144175800	Weak transcription	Hela-S3	cervix
13	chr4:144173600-144184000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:144173800-144174800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:144174200-144174600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:144174400-144174600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:144174400-144177600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:144174800-144175800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:144174800-144177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:144174800-144177600	Weak transcription	HMEC	breast
21	chr4:144174800-144177600	Weak transcription	NHEK	skin
22	chr4:144175200-144175400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:144175800-144176000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:144175800-144176000	Enhancers	Fetal Stomach	stomach
25	chr4:144175800-144176400	Enhancers	Hela-S3	cervix
26	chr4:144175800-144176600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:144176000-144177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:144176200-144176600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:144176400-144177800	Weak transcription	Hela-S3	cervix
30	chr4:144177600-144178200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:144177600-144178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:144177600-144178200	Enhancers	HMEC	breast
33	chr4:144177600-144178200	Enhancers	NHEK	skin
34	chr4:144177800-144178200	Enhancers	Hela-S3	cervix
35	chr4:144179800-144180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:144179800-144180200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:144179800-144180600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:144180200-144183800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:144180600-144183400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:144181600-144182400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:144181800-144182200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:144182000-144182400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:144182400-144184000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:144182800-144184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:144182800-144184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:144183400-144184400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr4:144183800-144184600	Enhancers	Primary hematopoietic stem cells	blood
48	chr4:144183800-144184800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:144184000-144184400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:144184000-144184400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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