Variant report

Variant	nsv517899
Chromosome Location	chr12:48081539-48082482
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	chr12:48082326..48084499-chr12:48098211..48100235,2	MCF-7	breast:
2	chr12:48082467..48084685-chr12:48086429..48089093,4	K562	blood:
3	chr12:48081310..48083010-chr12:48095296..48097492,2	K562	blood:
4	chr12:48072254..48074944-chr12:48080912..48083619,2	K562	blood:
5	chr12:48079877..48082271-chr12:48092983..48095366,2	K562	blood:
6	chr12:48081189..48083010-chr12:48095992..48097912,2	K562	blood:
7	chr12:48074943..48076860-chr12:48080990..48083244,2	MCF-7	breast:
8	chr12:48079504..48082471-chr12:48085134..48087838,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000005175	chromatin interactions
ENSG00000257433	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7136422	chr12:48081539-48081540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7136561	chr12:48081637-48081638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374167600	chr12:48081638-48081639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139952845	chr12:48081660-48081661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377619102	chr12:48081676-48081677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528621459	chr12:48081683-48081684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567204599	chr12:48081716-48081717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370722633	chr12:48081771-48081772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149831248	chr12:48081780-48081781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374642530	chr12:48081795-48081796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73104126	chr12:48081828-48081829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186631544	chr12:48081837-48081838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546640929	chr12:48081840-48081841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566427673	chr12:48081870-48081871	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534403650	chr12:48081946-48081947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538373686	chr12:48081955-48081956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35371625	chr12:48082001-48082002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535489785	chr12:48082015-48082016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7960755	chr12:48082024-48082025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569118678	chr12:48082058-48082059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538103257	chr12:48082063-48082064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568326574	chr12:48082066-48082067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529440913	chr12:48082076-48082077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144632906	chr12:48082079-48082080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199574352	chr12:48082081-48082082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147776728	chr12:48082097-48082098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377710900	chr12:48082108-48082109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11830377	chr12:48082111-48082112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569470702	chr12:48082119-48082120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78408148	chr12:48082123-48082124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369530529	chr12:48082130-48082131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546358065	chr12:48082132-48082133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565030910	chr12:48082178-48082179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530725932	chr12:48082205-48082206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544464442	chr12:48082216-48082217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561040831	chr12:48082221-48082222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77649783	chr12:48082256-48082257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547583052	chr12:48082321-48082322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566142473	chr12:48082347-48082348	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147012534	chr12:48082371-48082372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551860149	chr12:48082378-48082379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183211342	chr12:48082385-48082386	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186450872	chr12:48082394-48082395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538067943	chr12:48082395-48082396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs199555867	chr12:48082439-48082440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558097763	chr12:48082447-48082448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs566923880	chr12:48082454-48082455	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs1233055	chr12:48082482-48082483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
3	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
4	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
7	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:48046600-48099200	Weak transcription	Gastric	stomach
10	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
14	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
15	chr12:48055200-48083200	Weak transcription	Brain Germinal Matrix	brain
16	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
17	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
19	chr12:48058200-48086000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:48058600-48082600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:48058800-48086000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:48059800-48083000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:48059800-48083200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:48060400-48083000	Weak transcription	Spleen	Spleen
25	chr12:48060400-48088400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:48060600-48083000	Weak transcription	Fetal Stomach	stomach
27	chr12:48060600-48084200	Weak transcription	Thymus	Thymus
28	chr12:48060600-48086000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:48060600-48094200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:48060800-48094200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:48061600-48088600	Weak transcription	Brain Substantia Nigra	brain
32	chr12:48062000-48083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:48062600-48094200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:48062800-48098600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:48063000-48086400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:48063000-48099000	Weak transcription	Small Intestine	intestine
37	chr12:48064600-48086000	Weak transcription	Lung	lung
38	chr12:48064600-48086000	Weak transcription	HSMMtube	muscle
39	chr12:48064600-48099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:48064800-48089600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:48064800-48090000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:48065000-48092800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:48066400-48086000	Weak transcription	Fetal Heart	heart
44	chr12:48068400-48083200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:48068400-48097200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:48071800-48091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:48072800-48086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:48072800-48090200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:48072800-48091400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:48072800-48091600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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