Variant report

Variant	nsv517947
Chromosome Location	chr4:142770468-142795493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142781808..142782795-chr4:143048083..143048829,2	MCF-7	breast:
2	chr4:142782252..142782833-chr4:143767690..143768206,2	MCF-7	breast:

Extended variants
information (count: 524 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201544404	chr4:142770468-142770469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373782478	chr4:142770481-142770482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543089023	chr4:142770496-142770497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185903586	chr4:142770499-142770500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576391416	chr4:142770505-142770506	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147656898	chr4:142770517-142770518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559597398	chr4:142770534-142770535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142434860	chr4:142770601-142770602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs578086249	chr4:142770604-142770605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189754463	chr4:142770633-142770634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10715508	chr4:142770634-142770635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563305709	chr4:142770639-142770640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75331139	chr4:142770640-142770641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398092878	chr4:142770641-142770642	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540061917	chr4:142770680-142770681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545404677	chr4:142770706-142770707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539955295	chr4:142770718-142770719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558345306	chr4:142770721-142770722	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550251039	chr4:142770734-142770735	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201834721	chr4:142770746-142770747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539025075	chr4:142770764-142770765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547519419	chr4:142770779-142770780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566338859	chr4:142770793-142770794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6843544	chr4:142770852-142770853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555256742	chr4:142770862-142770863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2067811	chr4:142770872-142770873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17015105	chr4:142770891-142770892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555699117	chr4:142770900-142770901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558222207	chr4:142770901-142770902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575253514	chr4:142770921-142770922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2067812	chr4:142770948-142770949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183128476	chr4:142770950-142770951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146890511	chr4:142770956-142770957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142841326	chr4:142770958-142770959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77076875	chr4:142770961-142770962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398083590	chr4:142770966-142770967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145756912	chr4:142770976-142770977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572500018	chr4:142770992-142770993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542710135	chr4:142770995-142770996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148886225	chr4:142771029-142771030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541729985	chr4:142771050-142771051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74396052	chr4:142771132-142771133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530681777	chr4:142771162-142771163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552440727	chr4:142771169-142771170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565373377	chr4:142771176-142771177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532680482	chr4:142771243-142771244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547751227	chr4:142771290-142771291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565898646	chr4:142771312-142771313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200652005	chr4:142771352-142771353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530111961	chr4:142771386-142771387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142767600-142772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:142767600-142772400	Weak transcription	NHEK	skin
3	chr4:142767800-142772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:142770000-142771600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:142770400-142770800	Flanking Active TSS	Liver	Liver
6	chr4:142770400-142771200	Enhancers	Fetal Intestine Large	intestine
7	chr4:142770600-142771400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:142770600-142771600	Enhancers	A549	lung
9	chr4:142770800-142771600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:142770800-142775200	Enhancers	Liver	Liver
11	chr4:142771000-142773200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:142771200-142774200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:142771600-142772200	Weak transcription	A549	lung
14	chr4:142772200-142772800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:142772200-142772800	Enhancers	Esophagus	oesophagus
16	chr4:142772200-142772800	Enhancers	A549	lung
17	chr4:142772200-142773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:142772200-142775400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:142772400-142772600	Enhancers	Hela-S3	cervix
20	chr4:142772400-142775200	Enhancers	NHEK	skin
21	chr4:142772600-142772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:142772600-142774600	Weak transcription	Hela-S3	cervix
23	chr4:142772800-142774400	Weak transcription	A549	lung
24	chr4:142773000-142773200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:142773000-142774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:142773400-142774400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:142773400-142774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:142774200-142775000	Enhancers	Fetal Intestine Large	intestine
29	chr4:142774400-142775000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:142774400-142775000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:142774400-142775000	Enhancers	Osteobl	bone
32	chr4:142774400-142775200	Enhancers	A549	lung
33	chr4:142774600-142774800	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:142774600-142775000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:142774600-142775000	Enhancers	Fetal Intestine Small	intestine
36	chr4:142774600-142775200	Enhancers	Hela-S3	cervix
37	chr4:142774800-142775000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:142774800-142775200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr4:142774800-142775200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:142776600-142777600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:142778400-142779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:142779600-142780200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:142782800-142783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:142784600-142785000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:142788800-142790800	Enhancers	Fetal Heart	heart
46	chr4:142789800-142791200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:142790600-142791200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:142790800-142791200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:142790800-142791400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:142790800-142791600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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