Variant report

Variant	nsv769
Chromosome Location	chr12:72526432-72571656
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:72522303..72525203-chr12:72567309..72570061,2	K562	blood:
2	chr12:72527584..72529660-chr12:72533697..72535579,2	K562	blood:
3	chr12:72530734..72532713-chr12:72540749..72542421,2	K562	blood:
4	chr12:72530734..72532713-chr12:72540749..72542421,2	K562	blood:
5	chr12:72413927..72416201-chr12:72528090..72529733,2	K562	blood:
6	chr12:72527584..72529660-chr12:72533697..72535579,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFC3H1-12	chr12:72551543-72551758	NONHSAT029457
2	lnc-ZFC3H1-12	chr12:72551543-72551758	FPKM1_group_6520_transcript_2
3	lnc-ZFC3H1-12	chr12:72557897-72557902	FPKM1_group_6520_transcript_2
4	lnc-ZFC3H1-12	chr12:72557897-72557956	NONHSAT029457

No data

Extended variants
information (count: 564 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370620793	chr12:72526457-72526458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111861365	chr12:72526464-72526465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191891403	chr12:72526522-72526523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183289405	chr12:72526553-72526554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527694923	chr12:72526558-72526559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565843263	chr12:72526589-72526590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537431857	chr12:72526628-72526629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539670633	chr12:72526666-72526667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147485081	chr12:72526685-72526686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189231518	chr12:72526688-72526689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576070531	chr12:72526702-72526703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543428776	chr12:72526729-72526730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144445261	chr12:72526832-72526833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573679997	chr12:72526834-72526835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148416336	chr12:72526843-72526844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560696417	chr12:72526884-72526885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527981412	chr12:72526906-72526907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571444309	chr12:72526953-72526954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546059857	chr12:72526966-72526967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547016606	chr12:72526980-72526981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564423670	chr12:72527052-72527053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531623449	chr12:72527104-72527105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549761257	chr12:72527106-72527107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79305101	chr12:72527151-72527152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142586412	chr12:72527162-72527163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547276170	chr12:72527170-72527171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565837365	chr12:72527181-72527182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553642603	chr12:72527193-72527194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539757800	chr12:72527195-72527196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551737020	chr12:72527202-72527203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569946078	chr12:72527238-72527239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537092292	chr12:72527250-72527251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555394294	chr12:72527278-72527279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115217544	chr12:72527287-72527288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111508393	chr12:72527291-72527292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554093816	chr12:72527307-72527308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572565396	chr12:72527344-72527345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183884232	chr12:72527357-72527358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186727685	chr12:72527382-72527383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369330867	chr12:72527410-72527411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111482743	chr12:72527432-72527433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576318797	chr12:72527435-72527436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199578217	chr12:72527436-72527437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543419861	chr12:72527478-72527479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74617795	chr12:72527498-72527499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77371215	chr12:72527499-72527500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75498089	chr12:72527500-72527501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555877719	chr12:72527558-72527559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562066632	chr12:72527584-72527585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371791714	chr12:72527585-72527586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	16620391	CNVD
Breast cancer	21364760	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72524000-72530200	Weak transcription	Fetal Brain Male	brain
2	chr12:72527000-72529200	Enhancers	Fetal Lung	lung
3	chr12:72527000-72529600	Enhancers	Brain Germinal Matrix	brain
4	chr12:72527400-72528000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:72527400-72528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:72527400-72528600	Enhancers	Fetal Brain Female	brain
7	chr12:72527400-72529000	Enhancers	Brain Angular Gyrus	brain
8	chr12:72527600-72528200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:72527600-72528400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:72527600-72529200	Enhancers	Brain Hippocampus Middle	brain
11	chr12:72527800-72528000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:72528000-72528200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:72528000-72528800	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:72528000-72529600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:72528000-72529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:72528200-72528400	Enhancers	Brain Substantia Nigra	brain
17	chr12:72528200-72529200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:72528200-72529400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:72528200-72529800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:72528400-72528800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:72528800-72529000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:72528800-72531000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:72529000-72529200	Enhancers	Brain Substantia Nigra	brain
24	chr12:72529000-72530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:72529200-72529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:72529400-72530200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:72529400-72530800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:72529600-72530600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:72529800-72530600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:72529800-72531000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:72530200-72530600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:72530600-72531000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:72530600-72533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:72530600-72540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:72531000-72532600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:72531000-72533400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:72532600-72533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:72533400-72534200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:72533600-72534000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:72533600-72534200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:72535200-72535600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:72535200-72536000	Enhancers	GM12878-XiMat	blood
43	chr12:72538200-72538600	Enhancers	Brain Hippocampus Middle	brain
44	chr12:72538200-72538800	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:72538200-72538800	Enhancers	Brain Substantia Nigra	brain
46	chr12:72538200-72539000	Enhancers	Brain Anterior Caudate	brain
47	chr12:72540400-72540800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:72553600-72554000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:72553600-72554000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:72553600-72554000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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