Variant report

Variant	nsv522275
Chromosome Location	chr12:47707836-47718183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47717481..47720198-chr12:47722159..47724714,2	K562	blood:
2	chr12:47712650..47714735-chr12:47790179..47791919,2	MCF-7	breast:
3	chr12:47707076..47709882-chr12:47712516..47715124,2	K562	blood:
4	chr12:47701535..47703757-chr12:47709267..47711151,2	K562	blood:
5	chr12:47707076..47709882-chr12:47712516..47715124,2	K562	blood:

Extended variants
information (count: 369 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214656	chr12:47707836-47707837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565944378	chr12:47707881-47707882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149520163	chr12:47707896-47707897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556075104	chr12:47707933-47707934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4768793	chr12:47707999-47708000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541233659	chr12:47708002-47708003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4768794	chr12:47708004-47708005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576550969	chr12:47708157-47708158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74084924	chr12:47708176-47708177	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576036194	chr12:47708227-47708228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143286717	chr12:47708248-47708249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537670027	chr12:47708273-47708274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74084925	chr12:47708277-47708278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561972362	chr12:47708300-47708301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111592360	chr12:47708335-47708336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532311378	chr12:47708390-47708391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547636447	chr12:47708445-47708446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56757957	chr12:47708460-47708461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11183840	chr12:47708487-47708488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73097710	chr12:47708612-47708613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570052448	chr12:47708678-47708679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113888103	chr12:47708828-47708829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117748930	chr12:47708832-47708833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535877811	chr12:47708842-47708843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566033343	chr12:47708855-47708856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190247537	chr12:47708883-47708884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557944017	chr12:47708892-47708893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386762780	chr12:47708933-47708934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76856341	chr12:47708934-47708935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73097711	chr12:47708958-47708959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73097713	chr12:47708973-47708974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541812845	chr12:47708976-47708977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561640653	chr12:47708990-47708991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146291877	chr12:47709059-47709060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139537826	chr12:47709150-47709151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115430145	chr12:47709151-47709152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143045071	chr12:47709152-47709153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114408609	chr12:47709166-47709167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563950691	chr12:47709174-47709175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371297113	chr12:47709195-47709196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563810782	chr12:47709205-47709206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531211652	chr12:47709208-47709209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142531870	chr12:47709285-47709286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370148257	chr12:47709287-47709288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200090511	chr12:47709288-47709289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529320818	chr12:47709291-47709292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548985260	chr12:47709320-47709321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565701049	chr12:47709329-47709330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534681715	chr12:47709433-47709434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192506421	chr12:47709465-47709466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21804112	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47701800-47710400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:47702000-47710400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:47702000-47710400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:47702000-47710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:47704600-47710800	Enhancers	Liver	Liver
6	chr12:47705000-47708000	Enhancers	Fetal Intestine Large	intestine
7	chr12:47705200-47712200	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:47705400-47712800	Weak transcription	Spleen	Spleen
9	chr12:47705800-47711000	Enhancers	Primary B cells from cord blood	blood
10	chr12:47706400-47710400	Enhancers	A549	lung
11	chr12:47706800-47710000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:47706800-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:47706800-47710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:47707000-47710600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:47707200-47710400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:47707200-47710400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:47707200-47710400	Weak transcription	K562	blood
18	chr12:47707400-47710400	Weak transcription	GM12878-XiMat	blood
19	chr12:47707600-47710400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:47707800-47708000	Enhancers	Pancreas	Pancrea
21	chr12:47708000-47710800	Weak transcription	Pancreas	Pancrea
22	chr12:47708400-47708600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:47708600-47710400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:47708800-47709000	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:47709000-47710600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:47709200-47727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:47709600-47710600	Enhancers	HUVEC	blood vessel
28	chr12:47709800-47710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:47710000-47711400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:47710200-47710400	Enhancers	NHDF-Ad	bronchial
31	chr12:47710200-47710800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:47710400-47710600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:47710400-47710600	Enhancers	Adipose Nuclei	Adipose
34	chr12:47710400-47710600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:47710400-47710800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:47710400-47710800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:47710400-47710800	Enhancers	Fetal Kidney	kidney
38	chr12:47710400-47711000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:47710400-47711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:47710400-47711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:47710400-47711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:47710400-47711000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:47710400-47711000	Flanking Active TSS	NHDF-Ad	bronchial
44	chr12:47710400-47711200	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:47710400-47711200	Enhancers	HSMM	muscle
46	chr12:47710400-47711200	Enhancers	K562	blood
47	chr12:47710400-47711200	Enhancers	Osteobl	bone
48	chr12:47710400-47711400	Enhancers	Small Intestine	intestine
49	chr12:47710400-47711400	Flanking Active TSS	A549	lung
50	chr12:47710400-47711600	Enhancers	GM12878-XiMat	blood

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