Variant report

Variant	nsv945348
Chromosome Location	chr1:228173369-228186556
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228182608..228184218-chr1:228185823..228188577,2	K562	blood:
2	chr1:228185172..228187867-chr1:228295198..228298113,3	MCF-7	breast:
3	chr1:228185587..228188986-chr1:228190632..228193211,3	MCF-7	breast:
4	chr1:228174620..228176417-chr1:228182023..228184650,2	MCF-7	breast:
5	chr1:228185813..228188454-chr1:228247740..228249945,2	MCF-7	breast:
6	chr1:228180647..228182707-chr1:228268126..228270057,2	K562	blood:
7	chr1:228185727..228187297-chr1:228352308..228354949,2	K562	blood:
8	chr1:228182718..228186056-chr1:228186655..228189573,4	K562	blood:
9	chr1:228185399..228187182-chr1:228263997..228265663,2	K562	blood:
10	chr1:228182608..228184218-chr1:228185823..228188577,2	K562	blood:
11	chr1:228174620..228176417-chr1:228182023..228184650,2	MCF-7	breast:
12	chr1:228184851..228186852-chr1:228326702..228329457,2	K562	blood:
13	chr1:228184192..228186220-chr1:228191479..228194171,2	MCF-7	breast:
14	chr1:228183425..228185730-chr1:228191246..228193322,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143774	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000203684	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538340973	chr1:228173828-228173829	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs553389156	chr1:228173831-228173832	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs571714601	chr1:228173837-228173838	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs542167445	chr1:228173867-228173868	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556042088	chr1:228173888-228173889	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs574237799	chr1:228173963-228173964	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs17621519	chr1:228173981-228173982	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562940101	chr1:228173992-228173993	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs533505973	chr1:228174006-228174007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544216837	chr1:228174048-228174049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545527866	chr1:228174051-228174052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs367603466	chr1:228174052-228174053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562503113	chr1:228174061-228174062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189219991	chr1:228174110-228174111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143682337	chr1:228174117-228174118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181582966	chr1:228174148-228174149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531484764	chr1:228174197-228174198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2527618	chr1:228174198-228174199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558042333	chr1:228180072-228180073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573441343	chr1:228180131-228180132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113288732	chr1:228180139-228180140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570870832	chr1:228180143-228180144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192725893	chr1:228180147-228180148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11577983	chr1:228180192-228180193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34917140	chr1:228180194-228180195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575751578	chr1:228180227-228180228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544722301	chr1:228180244-228180245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538477891	chr1:228180248-228180249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369748914	chr1:228180251-228180252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562943255	chr1:228180252-228180253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533381091	chr1:228180301-228180302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551784101	chr1:228180378-228180379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560473350	chr1:228180389-228180390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139732106	chr1:228180415-228180416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143654817	chr1:228180444-228180445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147181082	chr1:228180469-228180470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537997015	chr1:228180486-228180487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112226226	chr1:228180488-228180489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558057061	chr1:228180495-228180496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549483553	chr1:228180553-228180554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141669172	chr1:228180585-228180586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183420289	chr1:228180595-228180596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538281539	chr1:228180605-228180606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553329769	chr1:228180630-228180631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573526426	chr1:228180659-228180660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139788278	chr1:228180660-228180661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115061303	chr1:228180665-228180666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574175448	chr1:228180676-228180677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149795202	chr1:228180684-228180685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2262292	chr1:228180753-228180754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228173800-228174000	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr1:228173800-228174200	ZNF genes & repeats	Aorta	Aorta
3	chr1:228180000-228180400	Enhancers	Placenta	Placenta
4	chr1:228180400-228182600	Weak transcription	Placenta	Placenta
5	chr1:228182000-228183000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:228182600-228182800	Enhancers	Placenta	Placenta
7	chr1:228182800-228183000	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links