Variant report

Variant	nsv945302
Chromosome Location	chr1:220851349-220854713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220852892..220854538-chr1:220905833..220907061,7	MCF-7	breast:
2	chr1:220454527..220455068-chr1:220853160..220854109,2	MCF-7	breast:
3	chr1:220853076..220854091-chr1:220906545..220907064,3	K562	blood:
4	chr1:220853123..220854093-chr1:220949753..220950686,4	K562	blood:
5	chr1:220848519..220851962-chr1:220854951..220857000,3	K562	blood:
6	chr1:220853771..220855747-chr1:220856132..220859014,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147145436	chr1:220851357-220851358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188309836	chr1:220851377-220851378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531665640	chr1:220851385-220851386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548387456	chr1:220851441-220851442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568300651	chr1:220851464-220851465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113831745	chr1:220851492-220851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12410279	chr1:220851520-220851521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs140259082	chr1:220851582-220851583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201763395	chr1:220851588-220851589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201023711	chr1:220851590-220851591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372222076	chr1:220851591-220851592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570533501	chr1:220851594-220851595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376830945	chr1:220851599-220851600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368419142	chr1:220851601-220851602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375164623	chr1:220851608-220851609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556876055	chr1:220851617-220851618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3010235	chr1:220851626-220851627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3015249	chr1:220851629-220851630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs28477590	chr1:220851630-220851631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28621848	chr1:220851633-220851634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556148937	chr1:220851634-220851635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3015250	chr1:220851637-220851638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs774144	chr1:220851638-220851639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6684890	chr1:220851641-220851642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71523009	chr1:220851646-220851647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6684894	chr1:220851649-220851650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61830222	chr1:220851655-220851656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6669789	chr1:220851657-220851658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61830223	chr1:220851661-220851662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71523010	chr1:220851662-220851663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs68080109	chr1:220851664-220851665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28588697	chr1:220851665-220851666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369548302	chr1:220851666-220851667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12728051	chr1:220851669-220851670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538744255	chr1:220851671-220851672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs66481704	chr1:220851694-220851695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374941573	chr1:220851696-220851697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12746081	chr1:220851697-220851698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12728062	chr1:220851699-220851700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375617002	chr1:220851706-220851707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201546254	chr1:220851708-220851709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199505785	chr1:220851709-220851710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199899045	chr1:220851710-220851711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61830224	chr1:220851711-220851712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200658169	chr1:220851712-220851713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202002595	chr1:220851713-220851714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201415591	chr1:220851714-220851715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199742990	chr1:220851716-220851717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200704025	chr1:220851717-220851718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12746234	chr1:220851720-220851721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220848000-220853600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:220851200-220852000	Weak transcription	Fetal Brain Male	brain
3	chr1:220852000-220852200	Enhancers	Fetal Brain Male	brain
4	chr1:220853600-220853800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:220853600-220853800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:220853600-220854000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:220853600-220854000	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:220853600-220854400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:220853600-220854400	Enhancers	Hela-S3	cervix
10	chr1:220853600-220854600	Enhancers	Liver	Liver
11	chr1:220853600-220854600	Enhancers	Pancreas	Pancrea
12	chr1:220853600-220854800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:220853600-220854800	Enhancers	Adipose Nuclei	Adipose
14	chr1:220853600-220854800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:220853600-220854800	Enhancers	Stomach Mucosa	stomach
16	chr1:220853600-220854800	Enhancers	HepG2	liver
17	chr1:220854200-220854600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:220854400-220854600	Enhancers	Esophagus	oesophagus
19	chr1:220854400-220854600	Flanking Active TSS	NHDF-Ad	bronchial
20	chr1:220854400-220854800	Enhancers	Ovary	ovary
21	chr1:220854400-220854800	Flanking Active TSS	Hela-S3	cervix
22	chr1:220854400-220854800	Enhancers	HUVEC	blood vessel
23	chr1:220854400-220854800	Enhancers	NHLF	lung
24	chr1:220854400-220855200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr1:220854600-220854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:220854600-220854800	Flanking Active TSS	Liver	Liver
27	chr1:220854600-220855000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:220854600-220855200	Active TSS	NHDF-Ad	bronchial
29	chr1:220854600-220863200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links