Variant report

Variant	nsv1041602
Chromosome Location	chr12:119472215-119499329
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:119417707..119418245-chr12:119474754..119475351,2	MCF-7	breast:
2	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:
3	chr10:32967551..32968071-chr12:119487893..119488413,2	MCF-7	breast:
4	chr12:119151580..119152192-chr12:119474698..119475328,2	MCF-7	breast:
5	chr12:118842456..118843402-chr12:119474125..119474951,3	MCF-7	breast:
6	chr12:118873972..118874726-chr12:119474831..119475363,2	MCF-7	breast:
7	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIT-6	chr12:119474590-119474772	ENSG00000257095.1

No data

Extended variants
information (count: 1015 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185770404	chr12:119472223-119472224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550280354	chr12:119472274-119472275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190240285	chr12:119472352-119472353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61937963	chr12:119472411-119472412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552593158	chr12:119472429-119472430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61937964	chr12:119472434-119472435	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181966950	chr12:119472482-119472483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555621765	chr12:119472488-119472489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575364676	chr12:119472532-119472533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533614337	chr12:119472556-119472557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113931233	chr12:119472560-119472561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557499865	chr12:119472582-119472583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61937965	chr12:119472609-119472610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565493706	chr12:119472644-119472645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11609417	chr12:119472670-119472671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116197375	chr12:119472679-119472680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61937966	chr12:119472690-119472691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375715111	chr12:119472730-119472731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542172017	chr12:119472731-119472732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184349098	chr12:119472754-119472755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77888915	chr12:119472789-119472790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189046951	chr12:119472800-119472801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571648963	chr12:119472835-119472836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141590626	chr12:119472846-119472847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147003677	chr12:119472868-119472869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71452681	chr12:119472924-119472925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532911123	chr12:119472945-119472946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546269497	chr12:119472970-119472971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2030825	chr12:119472983-119472984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369281329	chr12:119472987-119472988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79876429	chr12:119473017-119473018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181391785	chr12:119473026-119473027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569092901	chr12:119473232-119473233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538128753	chr12:119473288-119473289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12580370	chr12:119473304-119473305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs60280665	chr12:119473327-119473328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546352020	chr12:119473343-119473344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57429175	chr12:119473357-119473358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148068876	chr12:119473369-119473370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573176260	chr12:119473440-119473441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373139361	chr12:119473539-119473540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140890940	chr12:119473665-119473666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185626019	chr12:119473752-119473753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148849454	chr12:119473821-119473822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536841745	chr12:119473839-119473840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531280046	chr12:119473840-119473841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191126343	chr12:119473867-119473868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150133569	chr12:119473870-119473871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80061609	chr12:119473999-119474000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141595791	chr12:119474011-119474012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119458800-119474800	Weak transcription	Fetal Brain Female	brain
2	chr12:119468000-119474400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:119472000-119474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:119472200-119474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119473000-119473400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:119473000-119473600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:119474400-119474800	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:119474400-119475000	Enhancers	Brain Germinal Matrix	brain
9	chr12:119474400-119479400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:119474600-119474800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:119474600-119475200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119474600-119475200	Enhancers	Brain Angular Gyrus	brain
13	chr12:119474800-119475200	Enhancers	Fetal Brain Female	brain
14	chr12:119474800-119479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:119475000-119475200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:119475000-119475400	Enhancers	Fetal Brain Male	brain
17	chr12:119475000-119487800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:119475200-119477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:119475200-119505800	Weak transcription	Fetal Brain Female	brain
20	chr12:119477200-119477800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:119477600-119493800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:119477800-119482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:119479400-119480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:119479600-119480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:119482600-119483000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:119482800-119483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:119487000-119492600	Weak transcription	Fetal Brain Male	brain
28	chr12:119487800-119489200	Strong transcription	Brain Germinal Matrix	brain
29	chr12:119489200-119497200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:119492600-119493000	Enhancers	Fetal Brain Male	brain
31	chr12:119493000-119498800	Weak transcription	Fetal Brain Male	brain
32	chr12:119493600-119494400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:119496600-119496800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119497000-119498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:119497200-119497600	Strong transcription	Brain Germinal Matrix	brain
36	chr12:119497600-119498800	Weak transcription	Brain Germinal Matrix	brain
37	chr12:119498600-119499000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:119498600-119499000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:119498600-119499000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:119498600-119499000	Enhancers	Pancreas	Pancrea
41	chr12:119498600-119499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:119498800-119499000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr12:119498800-119499000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr12:119498800-119499200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:119498800-119499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:119498800-119499200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:119498800-119499200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:119498800-119499200	Enhancers	Fetal Brain Male	brain
49	chr12:119498800-119499400	Enhancers	Brain Germinal Matrix	brain
50	chr12:119498800-119499600	Enhancers	HUES48 Cell Line	embryonic stem cell

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