Variant report

Variant	nsv522480
Chromosome Location	chr1:210779936-210848344
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:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
2	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:
3	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
4	chr1:210813066..210813569-chr17:46986732..46987358,2	HCT-116	colon:
5	chr1:210805593..210807295-chr1:210811775..210814227,2	K562	blood:
6	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
7	chr1:210805593..210807295-chr1:210811775..210814227,2	K562	blood:
8	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
9	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:
10	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:
11	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
12	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:
13	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:
14	chr1:210813954..210814732-chr20:17710698..17711234,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERTAD4-2	chr1:210785659-210785730	NONHSAT009269
2	lnc-SERTAD4-2	chr1:210795808-210796066	l_178_chr1:210785660-210796066_testes
3	lnc-SERTAD4-2	chr1:210785661-210785730	l_178_chr1:210785660-210796066_testes
4	lnc-SERTAD4-2	chr1:210794377-210794413	l_178_chr1:210785660-210796066_testes
5	lnc-KCNH1-4	chr1:210797798-210798636	ucscGeneNc_uc001hje_1
6	lnc-SERTAD4-2	chr1:210794377-210794413	NONHSAT009269
7	lnc-SERTAD4-2	chr1:210795808-210796030	NONHSAT009269

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HHAT	hsa-miR-193b-3p	chr1:210847722-210847743

Extended variants
information (count: 2951 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2951 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4951722	chr1:210779936-210779937	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145188358	chr1:210779945-210779946	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569736282	chr1:210779949-210779950	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79975252	chr1:210779972-210779973	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190482397	chr1:210779984-210779985	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574535207	chr1:210779987-210779988	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548924903	chr1:210780024-210780025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535684040	chr1:210780047-210780048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554009850	chr1:210780056-210780057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572133172	chr1:210780057-210780058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545932145	chr1:210780065-210780066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369160455	chr1:210780104-210780105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576017274	chr1:210780139-210780140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142239476	chr1:210780243-210780244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146120304	chr1:210780262-210780263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372600576	chr1:210780269-210780270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182312105	chr1:210780278-210780279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7411855	chr1:210780284-210780285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79599684	chr1:210780288-210780289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377240672	chr1:210780297-210780298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369124157	chr1:210780298-210780299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533224085	chr1:210780314-210780315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4359079	chr1:210780348-210780349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374032503	chr1:210780371-210780372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117291462	chr1:210780388-210780389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145476938	chr1:210780410-210780411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549801378	chr1:210780461-210780462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548789074	chr1:210780477-210780478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568295484	chr1:210780499-210780500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377660949	chr1:210780513-210780514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4245753	chr1:210780516-210780517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4245754	chr1:210780547-210780548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572294839	chr1:210780555-210780556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539520842	chr1:210780690-210780691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35965858	chr1:210780694-210780695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200856374	chr1:210780719-210780720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138144468	chr1:210780721-210780722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199531986	chr1:210780723-210780724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186082943	chr1:210780738-210780739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575939960	chr1:210780794-210780795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190903256	chr1:210780797-210780798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78541530	chr1:210780798-210780799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61827393	chr1:210780813-210780814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376956353	chr1:210780828-210780829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180887644	chr1:210780897-210780898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35608554	chr1:210780906-210780907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541347616	chr1:210780940-210780941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116028590	chr1:210780943-210780944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533381729	chr1:210780971-210780972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545086943	chr1:210781033-210781034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210774000-210782000	Weak transcription	A549	lung
2	chr1:210779800-210780000	Genic enhancers	HSMMtube	muscle
3	chr1:210780000-210781400	Enhancers	HSMMtube	muscle
4	chr1:210781400-210791000	Weak transcription	HSMMtube	muscle
5	chr1:210789800-210791800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:210790400-210791000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:210790400-210801800	Weak transcription	Pancreas	Pancrea
8	chr1:210790600-210796800	Weak transcription	Ovary	ovary
9	chr1:210790600-210807000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:210790800-210795000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:210791000-210792200	Enhancers	HSMMtube	muscle
12	chr1:210791600-210791800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:210791800-210792400	Enhancers	Fetal Brain Male	brain
14	chr1:210791800-210792600	Enhancers	Fetal Brain Female	brain
15	chr1:210791800-210793200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:210791800-210794400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:210792200-210792400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:210792200-210793800	Genic enhancers	HSMMtube	muscle
19	chr1:210792600-210793600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:210792800-210793000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:210792800-210795200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:210793000-210795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:210793200-210793800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:210793400-210795800	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:210793600-210794600	Enhancers	Brain Substantia Nigra	brain
26	chr1:210793600-210795400	Enhancers	Brain Angular Gyrus	brain
27	chr1:210793600-210795800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:210793800-210794000	Enhancers	HSMMtube	muscle
29	chr1:210793800-210794800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:210793800-210795200	Enhancers	Brain Anterior Caudate	brain
31	chr1:210793800-210797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:210794000-210795200	Weak transcription	HSMMtube	muscle
33	chr1:210794200-210794800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:210794200-210794800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210794400-210794800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:210794400-210794800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:210794400-210794800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:210794600-210795200	Enhancers	Brain Germinal Matrix	brain
39	chr1:210794600-210795200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:210794800-210796200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:210795000-210795200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:210795000-210795400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:210795000-210801400	Weak transcription	Aorta	Aorta
44	chr1:210795200-210795400	Enhancers	Brain Substantia Nigra	brain
45	chr1:210795200-210796000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:210795200-210797400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:210795200-210798200	Weak transcription	Brain Anterior Caudate	brain
48	chr1:210795200-210799200	Strong transcription	HSMMtube	muscle
49	chr1:210795400-210797800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:210795400-210797800	Weak transcription	Brain Substantia Nigra	brain

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