Variant report

Variant	nsv1001526
Chromosome Location	chr4:49057815-49154757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:
2	chr4:49061609..49064062-chr4:49065907..49068777,2	K562	blood:
3	chr2:89879085..89879687-chr4:49152239..49152833,2	MCF-7	breast:

Extended variants
information (count: 11564 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:11564 , 50 per page) page: 1 2 3 4 5 6 7 ... 232

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568032399	chr4:49057824-49057825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551986155	chr4:49057839-49057840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572745287	chr4:49057869-49057870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144749919	chr4:49057893-49057894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553335728	chr4:49057894-49057895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183118398	chr4:49057899-49057900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2768958	chr4:49057912-49057913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs71191286	chr4:49057931-49057932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547399083	chr4:49057932-49057933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558785251	chr4:49057985-49057986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549598352	chr4:49058021-49058022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13151871	chr4:49058035-49058036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373407276	chr4:49058086-49058087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189155073	chr4:49058088-49058089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35009993	chr4:49058132-49058133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535080394	chr4:49058178-49058179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377620190	chr4:49058194-49058195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371289521	chr4:49058201-49058202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141594470	chr4:49058247-49058248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564175827	chr4:49058275-49058276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531653620	chr4:49058279-49058280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549674006	chr4:49058294-49058295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10024211	chr4:49058295-49058296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143631896	chr4:49058348-49058349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75170204	chr4:49058479-49058480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193131032	chr4:49058480-49058481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151119307	chr4:49058484-49058485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539001019	chr4:49058488-49058489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184417618	chr4:49058524-49058525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571023590	chr4:49058525-49058526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75103588	chr4:49058552-49058553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556459773	chr4:49058582-49058583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555531544	chr4:49058644-49058645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372845915	chr4:49058645-49058646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575025396	chr4:49058649-49058650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2768959	chr4:49058699-49058700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554270828	chr4:49058700-49058701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540991642	chr4:49058796-49058797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572572099	chr4:49058828-49058829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546188611	chr4:49058896-49058897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564519817	chr4:49058902-49058903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189342901	chr4:49058924-49058925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543727386	chr4:49058956-49058957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150251348	chr4:49058990-49058991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191619538	chr4:49058996-49058997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138978968	chr4:49059002-49059003	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142130207	chr4:49059014-49059015	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558996215	chr4:49059035-49059036	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184201508	chr4:49059045-49059046	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73152004	chr4:49059057-49059058	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49036800-49058800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:49053400-49059000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:49055400-49058800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:49058800-49059600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:49058800-49059600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr4:49059000-49060800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
7	chr4:49059600-49064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:49059600-49064200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:49060800-49064800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:49061600-49062200	ZNF genes & repeats	Esophagus	oesophagus
11	chr4:49061600-49062400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:49062000-49064800	Weak transcription	Colonic Mucosa	Colon
13	chr4:49064200-49065000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:49064200-49065000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr4:49065000-49065200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:49065000-49066600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:49065200-49065400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:49065400-49065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:49068600-49068800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:49085000-49085400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:49085400-49093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:49087400-49093200	Weak transcription	Left Ventricle	heart
23	chr4:49089800-49090000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:49090000-49093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr4:49093200-49093600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr4:49093200-49093600	ZNF genes & repeats	Right Atrium	heart
28	chr4:49093200-49093600	ZNF genes & repeats	Osteobl	bone
29	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
30	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
31	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
32	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
33	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
34	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
50	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links