Variant report

Variant	nsv872510
Chromosome Location	chr1:166468429-166500023
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166477798..166479870-chr1:166486625..166488472,2	K562	blood:
2	chr1:166498822..166501708-chr1:166502743..166504796,2	MCF-7	breast:
3	chr1:166483459..166485207-chr1:166489048..166491156,2	K562	blood:
4	chr1:166477460..166479821-chr1:166482499..166484038,2	K562	blood:
5	chr1:166477798..166479870-chr1:166486625..166488472,2	K562	blood:
6	chr1:166491898..166494773-chr1:166503780..166506607,2	K562	blood:
7	chr1:166458105..166459738-chr1:166478542..166480518,2	K562	blood:
8	chr1:166477460..166479821-chr1:166482499..166484038,2	K562	blood:
9	chr1:166483459..166485207-chr1:166489048..166491156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234142	chromatin interactions

Extended variants
information (count: 407 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200626957	chr1:166478030-166478031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116314211	chr1:166478053-166478054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141586444	chr1:166478098-166478099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371650765	chr1:166478116-166478117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568378405	chr1:166478124-166478125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12043019	chr1:166478195-166478196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569941344	chr1:166478241-166478242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150428025	chr1:166478260-166478261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192267465	chr1:166478268-166478269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77060112	chr1:166478288-166478289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138182924	chr1:166478413-166478414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149590917	chr1:166478471-166478472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543911631	chr1:166478549-166478550	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561855847	chr1:166478550-166478551	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527374506	chr1:166478577-166478578	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200924214	chr1:166478578-166478579	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs397737664	chr1:166478579-166478580	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143999421	chr1:166478604-166478605	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114546573	chr1:166478630-166478631	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113927157	chr1:166478659-166478660	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10918496	chr1:166478689-166478690	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569130607	chr1:166478724-166478725	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372232244	chr1:166478841-166478842	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138692563	chr1:166478855-166478856	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547791017	chr1:166478858-166478859	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34003064	chr1:166478924-166478925	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370056082	chr1:166478932-166478933	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370747769	chr1:166478934-166478935	Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34747327	chr1:166479010-166479011	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115244578	chr1:166479038-166479039	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568566054	chr1:166479078-166479079	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534030126	chr1:166479086-166479087	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34626522	chr1:166479116-166479117	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372843031	chr1:166479147-166479148	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554176382	chr1:166479151-166479152	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141825197	chr1:166479237-166479238	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539768248	chr1:166479249-166479250	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs5018545	chr1:166479251-166479252	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs5018544	chr1:166479263-166479264	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111289298	chr1:166479302-166479303	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150511021	chr1:166479307-166479308	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs5018543	chr1:166479313-166479314	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577940079	chr1:166479329-166479330	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540729584	chr1:166479336-166479337	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184379069	chr1:166479340-166479341	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1908318	chr1:166479342-166479343	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200138444	chr1:166479354-166479355	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535418843	chr1:166479359-166479360	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1908317	chr1:166479369-166479370	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531860287	chr1:166479378-166479379	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166478000-166478400	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr1:166478000-166482200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:166478400-166479600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:166478600-166479000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:166479600-166482600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:166480600-166481000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:166480800-166481000	Enhancers	Primary B cells from cord blood	blood
8	chr1:166482600-166483800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:166483800-166484200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr1:166494800-166495400	Enhancers	Liver	Liver
11	chr1:166496400-166496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:166496400-166497000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:166496400-166498200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:166496600-166496800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:166496600-166497000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:166496600-166498400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:166496800-166497000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:166496800-166497200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:166496800-166497600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:166496800-166498000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:166497000-166497200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:166497000-166497400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:166497200-166497600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:166497200-166498400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:166497400-166498400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:166497600-166498200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:166498200-166498400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:166498400-166500200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr1:166498400-166500800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr1:166499800-166500400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr1:166500000-166500200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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