Variant report

Variant	nsv975483
Chromosome Location	chr12:48283145-48285835
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:0)
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	chr12:48282132..48284740-chr12:48286708..48289007,3	K562	blood:
2	chr12:48280571..48282115-chr12:48285370..48287447,2	K562	blood:
3	chr12:48272376..48273992-chr12:48281327..48283565,2	MCF-7	breast:
4	chr12:48282162..48285674-chr12:48296716..48298812,3	K562	blood:
5	chr12:48276795..48279456-chr12:48285534..48287746,2	MCF-7	breast:
6	chr12:48282907..48285803-chr12:48287425..48289642,3	K562	blood:
7	chr12:48283676..48285201-chr12:48298400..48300242,2	MCF-7	breast:
8	chr12:48284997..48287054-chr12:48287435..48289980,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111424	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570532839	chr12:48283163-48283164	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116521236	chr12:48283225-48283226	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566724934	chr12:48283235-48283236	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555873524	chr12:48283286-48283287	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61052939	chr12:48283287-48283288	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540043942	chr12:48283299-48283300	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76483287	chr12:48283317-48283318	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370256057	chr12:48283318-48283319	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187044757	chr12:48283324-48283325	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546050783	chr12:48283346-48283347	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562458205	chr12:48283347-48283348	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58579499	chr12:48283356-48283357	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145923213	chr12:48283374-48283375	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139179551	chr12:48283429-48283430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547864325	chr12:48283437-48283438	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527342026	chr12:48283454-48283455	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374960779	chr12:48283499-48283500	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367638744	chr12:48283510-48283511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60082435	chr12:48283522-48283523	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73293289	chr12:48283587-48283588	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553293100	chr12:48283592-48283593	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74085276	chr12:48283610-48283611	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371814292	chr12:48283630-48283631	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113104382	chr12:48283631-48283632	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78463064	chr12:48283647-48283648	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535849015	chr12:48283672-48283673	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34317990	chr12:48283677-48283678	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12721376	chr12:48283693-48283694	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111379488	chr12:48283737-48283738	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7965943	chr12:48283756-48283757	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557992596	chr12:48283774-48283775	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576935202	chr12:48283799-48283800	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143669045	chr12:48283825-48283826	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545604281	chr12:48283836-48283837	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576892179	chr12:48283871-48283872	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534084680	chr12:48283939-48283940	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575970267	chr12:48283948-48283949	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192372886	chr12:48283949-48283950	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557863139	chr12:48284022-48284023	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182471110	chr12:48284039-48284040	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527307685	chr12:48284046-48284047	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572907725	chr12:48284076-48284077	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11612293	chr12:48284110-48284111	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2853566	chr12:48284126-48284127	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12230679	chr12:48284133-48284134	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533551024	chr12:48284143-48284144	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2853565	chr12:48284148-48284149	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554987483	chr12:48284149-48284150	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11168285	chr12:48284159-48284160	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190075415	chr12:48284160-48284161	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
4	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
5	chr12:48277200-48290600	Weak transcription	Gastric	stomach
6	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
9	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
11	chr12:48278600-48287800	Strong transcription	NHEK	skin
12	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
13	chr12:48279200-48286000	Weak transcription	Lung	lung
14	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:48279400-48283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:48279400-48283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:48279400-48283200	Weak transcription	Placenta	Placenta
18	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:48280200-48286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:48280200-48286600	Weak transcription	Primary T cells from cord blood	blood
21	chr12:48280400-48284800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:48280400-48284800	Weak transcription	HSMM	muscle
23	chr12:48280600-48284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48280800-48283200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:48280800-48284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:48280800-48284800	Weak transcription	NHDF-Ad	bronchial
27	chr12:48280800-48285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:48280800-48285000	Weak transcription	Osteobl	bone
29	chr12:48280800-48286600	Weak transcription	NHLF	lung
30	chr12:48281400-48283600	Enhancers	Fetal Intestine Large	intestine
31	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:48281800-48283600	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:48282000-48283200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:48282000-48283600	Enhancers	GM12878-XiMat	blood
36	chr12:48282200-48283400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:48282200-48283600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:48282200-48285800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:48282400-48283200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:48282400-48283400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:48282400-48283400	Enhancers	Small Intestine	intestine
42	chr12:48282400-48283600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:48282400-48283800	Enhancers	Spleen	Spleen
44	chr12:48282400-48284000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:48282600-48283400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:48282600-48284800	Weak transcription	HMEC	breast
47	chr12:48282800-48283200	Enhancers	K562	blood
48	chr12:48282800-48283400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:48282800-48283400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:48282800-48283400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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