Variant report

Variant	nsv872946
Chromosome Location	chr1:195832253-195859022
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
2	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
3	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
4	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
5	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
6	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
7	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
8	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
9	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
10	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
11	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
12	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
13	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
14	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
15	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
16	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
17	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
18	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
19	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
20	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
21	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
22	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
23	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:

No data

Extended variants
information (count: 386 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16838980	chr1:195832253-195832254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561187129	chr1:195832303-195832304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539990886	chr1:195832314-195832315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549518780	chr1:195832320-195832321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs207460960	chr1:195832381-195832382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571273146	chr1:195832396-195832397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532153964	chr1:195832454-195832455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547569688	chr1:195832499-195832500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565961134	chr1:195832513-195832514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558189914	chr1:195832521-195832522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375570888	chr1:195832566-195832567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150190414	chr1:195832587-195832588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564499430	chr1:195832632-195832633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115966295	chr1:195832652-195832653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10494732	chr1:195832664-195832665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145684812	chr1:195832716-195832717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74133336	chr1:195832725-195832726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74133337	chr1:195832731-195832732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572240212	chr1:195832749-195832750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542857962	chr1:195832763-195832764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561124175	chr1:195832812-195832813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113979528	chr1:195832815-195832816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576260791	chr1:195832823-195832824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543402462	chr1:195832825-195832826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183529965	chr1:195832830-195832831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189386422	chr1:195832854-195832855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548114535	chr1:195832888-195832889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116300830	chr1:195832908-195832909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547062773	chr1:195832929-195832930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141116923	chr1:195832968-195832969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7542834	chr1:195832997-195832998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537997770	chr1:195833010-195833011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548378783	chr1:195833011-195833012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144853342	chr1:195833028-195833029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537386666	chr1:195833059-195833060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55917394	chr1:195833068-195833069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs55654011	chr1:195833075-195833076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539057754	chr1:195833114-195833115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535037799	chr1:195833160-195833161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554473134	chr1:195833184-195833185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553467236	chr1:195833225-195833226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574995447	chr1:195833253-195833254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536404178	chr1:195833288-195833289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554851689	chr1:195833320-195833321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57214547	chr1:195833335-195833336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192643223	chr1:195833345-195833346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141581019	chr1:195833347-195833348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397943090	chr1:195833348-195833349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554904758	chr1:195833349-195833350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184694081	chr1:195833464-195833465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:195832800-195833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:195832800-195833600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:195833200-195833600	Enhancers	K562	blood
5	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:195833600-195836600	Active TSS	K562	blood
7	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
8	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
13	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:195836600-195837000	Enhancers	K562	blood
16	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:195849000-195849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:195849000-195849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:195855400-195855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:195855400-195855800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:195855400-195855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:195855400-195856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:195855400-195856000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:195855800-195858200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:195858200-195858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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