Variant report

Variant	nsv818822
Chromosome Location	chr1:223614738-223632045
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223322286..223323076-chr1:223617469..223617980,2	MCF-7	breast:
2	chr1:223608260..223610550-chr1:223616264..223617958,2	MCF-7	breast:
3	chr1:223322170..223323076-chr1:223617469..223618437,3	MCF-7	breast:
4	chr1:223605027..223607773-chr1:223615819..223618091,2	MCF-7	breast:
5	chr1:223604902..223607898-chr1:223616304..223618206,2	MCF-7	breast:
6	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
7	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
8	chr1:223305854..223308381-chr1:223616232..223619219,2	MCF-7	breast:
9	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
10	chr1:223534849..223538429-chr1:223615365..223617815,4	MCF-7	breast:
11	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
12	chr1:223322186..223322942-chr1:223617607..223618444,2	MCF-7	breast:
13	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
14	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:
15	chr1:223615693..223618296-chr1:223662772..223664878,2	MCF-7	breast:
16	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187554	chromatin interactions
ENSG00000143502	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551845108	chr1:223615446-223615447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566822277	chr1:223615476-223615477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534294115	chr1:223615480-223615481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555806301	chr1:223615490-223615491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76125024	chr1:223615491-223615492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535677443	chr1:223615496-223615497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111410161	chr1:223615566-223615567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77755993	chr1:223615572-223615573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113904277	chr1:223615604-223615605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551043367	chr1:223615629-223615630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111500989	chr1:223615630-223615631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146601478	chr1:223615647-223615648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61839897	chr1:223615648-223615649	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528963349	chr1:223615728-223615729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551194600	chr1:223615730-223615731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147868515	chr1:223615746-223615747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533566292	chr1:223615774-223615775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376297560	chr1:223615843-223615844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539277616	chr1:223615853-223615854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533666635	chr1:223615868-223615869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190251860	chr1:223615874-223615875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566895918	chr1:223615916-223615917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181260055	chr1:223615927-223615928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546890009	chr1:223615947-223615948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114561020	chr1:223615999-223616000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141557867	chr1:223616035-223616036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537950732	chr1:223616038-223616039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147103602	chr1:223616072-223616073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567108728	chr1:223616110-223616111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539364559	chr1:223616138-223616139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113209370	chr1:223616190-223616191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6699902	chr1:223616212-223616213	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73126109	chr1:223616235-223616236	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113867191	chr1:223616248-223616249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs61839898	chr1:223616294-223616295	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80311048	chr1:223616296-223616297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543923374	chr1:223616402-223616403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563080934	chr1:223616409-223616410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533528454	chr1:223616433-223616434	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367874252	chr1:223616458-223616459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112429829	chr1:223616471-223616472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61839899	chr1:223616484-223616485	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535837725	chr1:223616520-223616521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111295112	chr1:223616535-223616536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531842215	chr1:223616550-223616551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148167561	chr1:223616552-223616553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553533238	chr1:223616557-223616558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568733076	chr1:223616559-223616560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142032555	chr1:223616575-223616576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539276935	chr1:223616616-223616617	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	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
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223616200-223616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223616600-223617000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:223627200-223628400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:223628800-223629200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:223631800-223632000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr1:223632000-223633600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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