Variant report

Variant	esv1816351
Chromosome Location	chr12:74616769-74647299
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:2)
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	chr12:74636496..74638215-chr12:74687391..74689120,2	K562	blood:
2	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
3	chr12:74609981..74612603-chr12:74615480..74618314,2	K562	blood:
4	chr12:74630058..74632714-chr12:74633651..74635328,2	MCF-7	breast:
5	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
6	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
7	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:
8	chr12:74620606..74623587-chr12:74624395..74628549,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-3	chr12:74642417-74642627	ENSG00000257183.1
2	lnc-KCNC2-3	chr12:74644265-74644361	ENSG00000257183.1

No data

Extended variants
information (count: 1086 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1086 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10879741	chr12:74616769-74616770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370055083	chr12:74616790-74616791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149363292	chr12:74616829-74616830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546872181	chr12:74616843-74616844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113496004	chr12:74616882-74616883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534247193	chr12:74616888-74616889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192072224	chr12:74616900-74616901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373230153	chr12:74616906-74616907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553883666	chr12:74616966-74616967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182854881	chr12:74617006-74617007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571210972	chr12:74617037-74617038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533471506	chr12:74617070-74617071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117689830	chr12:74617103-74617104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375157114	chr12:74617177-74617178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556963545	chr12:74617178-74617179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187527272	chr12:74617179-74617180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536282594	chr12:74617195-74617196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552990801	chr12:74617279-74617280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573132065	chr12:74617306-74617307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564427214	chr12:74617334-74617335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146299588	chr12:74617365-74617366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139630772	chr12:74617366-74617367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376269056	chr12:74617378-74617379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544313644	chr12:74617396-74617397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191486446	chr12:74617483-74617484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530012351	chr12:74617489-74617490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540275982	chr12:74617492-74617493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560611281	chr12:74617516-74617517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532847254	chr12:74617535-74617536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59374718	chr12:74617548-74617549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184026476	chr12:74617581-74617582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576256272	chr12:74617603-74617604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200337602	chr12:74617625-74617626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569453111	chr12:74617642-74617643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67121434	chr12:74617654-74617655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550675072	chr12:74617664-74617665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75770443	chr12:74617717-74617718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187489523	chr12:74617797-74617798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552943001	chr12:74617808-74617809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74105235	chr12:74617814-74617815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142823483	chr12:74617822-74617823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558432344	chr12:74617825-74617826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575079373	chr12:74617877-74617878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10879742	chr12:74617891-74617892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192760376	chr12:74617953-74617954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574629812	chr12:74617956-74617957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568235659	chr12:74617958-74617959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571815220	chr12:74617991-74617992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11179983	chr12:74618002-74618003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs11179984	chr12:74618056-74618057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74598000-74629200	Weak transcription	K562	blood
2	chr12:74629200-74630200	Enhancers	K562	blood
3	chr12:74630200-74634800	Weak transcription	K562	blood
4	chr12:74634800-74635200	Strong transcription	K562	blood
5	chr12:74635200-74636200	Weak transcription	K562	blood
6	chr12:74636000-74636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:74636000-74636800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:74636200-74636600	Strong transcription	K562	blood
9	chr12:74636600-74678000	Weak transcription	K562	blood
10	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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