Variant report

Variant	nsv825520
Chromosome Location	chr1:180562677-180564787
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180550479..180555497-chr1:180560043..180567544,7	K562	blood:
2	chr1:180557727..180561023-chr1:180561161..180564743,6	K562	blood:
3	chr1:180563913..180566182-chr1:180599557..180601195,2	K562	blood:
4	chr1:180563278..180564789-chr1:180567312..180569101,2	K562	blood:
5	chr1:180560503..180563331-chr1:180569688..180572566,2	K562	blood:
6	chr1:180553413..180555386-chr1:180560751..180563747,2	K562	blood:
7	chr1:180558143..180561068-chr1:180562367..180566154,4	K562	blood:
8	chr1:180552650..180554961-chr1:180564277..180566227,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143324	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558029536	chr1:180562680-180562681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577769218	chr1:180562689-180562690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540012255	chr1:180562727-180562728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191939591	chr1:180562728-180562729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4111063	chr1:180562739-180562740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542246469	chr1:180562753-180562754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377703406	chr1:180562756-180562757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142115711	chr1:180562783-180562784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143765678	chr1:180562797-180562798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550861576	chr1:180562834-180562835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562899688	chr1:180562840-180562841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184738022	chr1:180562858-180562859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533584384	chr1:180562874-180562875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569631317	chr1:180562875-180562876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4111064	chr1:180562886-180562887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566978758	chr1:180562892-180562893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535937149	chr1:180562916-180562917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551762139	chr1:180562924-180562925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549439525	chr1:180562928-180562929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569270712	chr1:180562930-180562931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538195200	chr1:180562956-180562957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148209873	chr1:180562965-180562966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189141822	chr1:180562978-180562979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141199317	chr1:180562999-180563000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150752432	chr1:180563030-180563031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573439365	chr1:180563050-180563051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139017413	chr1:180563051-180563052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562193026	chr1:180563067-180563068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377246645	chr1:180563094-180563095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192479964	chr1:180563106-180563107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143434319	chr1:180563117-180563118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564818491	chr1:180563128-180563129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533430428	chr1:180563166-180563167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184501766	chr1:180563171-180563172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560510701	chr1:180563180-180563181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554798946	chr1:180563185-180563186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549500813	chr1:180563249-180563250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569331459	chr1:180563268-180563269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538256738	chr1:180563270-180563271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551455759	chr1:180563387-180563388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571543717	chr1:180563403-180563404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533832405	chr1:180563411-180563412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370504084	chr1:180563422-180563423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147211465	chr1:180563425-180563426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573500112	chr1:180563450-180563451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140611210	chr1:180563465-180563466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144363967	chr1:180563474-180563475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145559157	chr1:180563477-180563478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545011890	chr1:180563541-180563542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148467315	chr1:180563592-180563593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
Bladder cancer	19088036	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
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180559200-180564200	Weak transcription	Right Atrium	heart
2	chr1:180561600-180564800	Enhancers	Pancreas	Pancrea
3	chr1:180561800-180562800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:180562000-180564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:180562200-180562800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:180562200-180562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:180562200-180564000	Enhancers	K562	blood
8	chr1:180562200-180564600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180562200-180564800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:180562200-180565000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:180562400-180563600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:180562400-180563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:180562400-180564000	Weak transcription	Left Ventricle	heart
14	chr1:180562600-180562800	Enhancers	Fetal Brain Female	brain
15	chr1:180562800-180563800	Weak transcription	Fetal Brain Female	brain
16	chr1:180563400-180563600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:180563600-180564200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:180563600-180564400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:180563600-180564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:180563600-180567200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:180563800-180564200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:180563800-180564400	Enhancers	Fetal Brain Female	brain
23	chr1:180563800-180564800	Enhancers	A549	lung
24	chr1:180564000-180564400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:180564000-180564400	Enhancers	Left Ventricle	heart
26	chr1:180564000-180564400	Flanking Active TSS	K562	blood
27	chr1:180564200-180564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:180564200-180564800	Enhancers	Right Atrium	heart
29	chr1:180564200-180567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:180564400-180564800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:180564400-180564800	Enhancers	K562	blood
32	chr1:180564400-180566200	Weak transcription	Fetal Brain Female	brain
33	chr1:180564400-180572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:180564600-180564800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:180564600-180567200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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