Variant report

Variant	nsv518487
Chromosome Location	chr12:48051456-48057791
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:1)
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	chr12:48050085..48052473-chr12:48066731..48069120,2	K562	blood:
2	chr12:48051468..48053610-chr12:48056133..48058641,2	K562	blood:
3	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
4	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
5	chr12:47940639..47941454-chr12:48051090..48052018,3	MCF-7	breast:
6	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
7	chr12:47426174..47426833-chr12:48051074..48051739,2	MCF-7	breast:
8	chr12:48040105..48042458-chr12:48048872..48051635,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENDOU-6	chr12:48057073-48057373	NONHSAT027930

No data

Variant related genes	Relation type
ENSG00000005175	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs948393	chr12:48051456-48051457	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537801188	chr12:48051475-48051476	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554259047	chr12:48051540-48051541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561721784	chr12:48051560-48051561	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs948392	chr12:48051633-48051634	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369962190	chr12:48051642-48051643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539927710	chr12:48051808-48051809	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560228728	chr12:48051826-48051827	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372576589	chr12:48051845-48051846	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188301497	chr12:48051867-48051868	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192031671	chr12:48051892-48051893	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148092149	chr12:48051905-48051906	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531894874	chr12:48051912-48051913	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183830832	chr12:48051926-48051927	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561934510	chr12:48051978-48051979	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371774644	chr12:48051985-48051986	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527716853	chr12:48052000-48052001	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367932730	chr12:48052035-48052036	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76486690	chr12:48052125-48052126	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570942549	chr12:48052132-48052133	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539058036	chr12:48052133-48052134	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532296325	chr12:48052178-48052179	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs118109531	chr12:48052229-48052230	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115298577	chr12:48052233-48052234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538133100	chr12:48052237-48052238	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113070109	chr12:48052274-48052275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531810121	chr12:48052337-48052338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141821466	chr12:48052342-48052343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533798473	chr12:48052413-48052414	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114217669	chr12:48052472-48052473	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150274054	chr12:48052481-48052482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532734851	chr12:48052489-48052490	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536339554	chr12:48052496-48052497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34131191	chr12:48052539-48052540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545950805	chr12:48052606-48052607	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556330510	chr12:48052608-48052609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189246313	chr12:48052616-48052617	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542139321	chr12:48052682-48052683	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs193101860	chr12:48052690-48052691	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs183489447	chr12:48052727-48052728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551084128	chr12:48052733-48052734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541417240	chr12:48052738-48052739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186703558	chr12:48052810-48052811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533454492	chr12:48052817-48052818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376639648	chr12:48052853-48052854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139302191	chr12:48052858-48052859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531570629	chr12:48052888-48052889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191560071	chr12:48052899-48052900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560196096	chr12:48052906-48052907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143316614	chr12:48053010-48053011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48036600-48055400	Weak transcription	Ovary	ovary
9	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
10	chr12:48039000-48052800	Weak transcription	Dnd41	blood
11	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
14	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
17	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:48043400-48080000	Weak transcription	NHEK	skin
19	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
20	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
21	chr12:48045000-48051800	Weak transcription	Aorta	Aorta
22	chr12:48045000-48055200	Weak transcription	NH-A	brain
23	chr12:48045200-48052000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:48045200-48059600	Weak transcription	HMEC	breast
25	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
26	chr12:48045200-48079200	Weak transcription	NHLF	lung
27	chr12:48045400-48053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:48045600-48053000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:48045600-48054600	Weak transcription	Osteobl	bone
31	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
33	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
35	chr12:48045800-48052800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:48045800-48052800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:48045800-48053000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:48046000-48052200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:48046000-48055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:48046200-48053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:48046200-48055000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:48046200-48055000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:48046200-48055200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:48046400-48053000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:48046400-48061200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:48046600-48052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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