Variant report

Variant	nsv983317
Chromosome Location	chr12:45228308-45229655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45228200..45231167-chr12:45235682..45238420,2	K562	blood:
2	chr12:45228113..45230766-chr12:45231414..45233959,2	K562	blood:
3	chr12:45229297..45232222-chr12:45268941..45271789,2	K562	blood:

Variant related genes	Relation type
ENSG00000184613	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576517142	chr12:45228308-45228309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7973268	chr12:45228324-45228325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574015490	chr12:45228341-45228342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541416257	chr12:45228342-45228343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559756171	chr12:45228348-45228349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564172208	chr12:45228380-45228381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116578878	chr12:45228406-45228407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4272837	chr12:45228427-45228428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144182035	chr12:45228456-45228457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530615620	chr12:45228457-45228458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112154743	chr12:45228461-45228462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12227311	chr12:45228464-45228465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149156999	chr12:45228466-45228467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546209228	chr12:45228474-45228475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570873729	chr12:45228527-45228528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58198686	chr12:45228619-45228620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532083401	chr12:45228629-45228630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550261901	chr12:45228630-45228631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74356297	chr12:45228642-45228643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74658300	chr12:45228643-45228644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79989708	chr12:45228657-45228658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112943516	chr12:45228668-45228669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143355649	chr12:45228671-45228672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190788947	chr12:45228672-45228673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201349092	chr12:45228683-45228684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34205772	chr12:45228685-45228686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11182708	chr12:45228694-45228695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10785538	chr12:45228723-45228724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187349037	chr12:45228771-45228772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368519431	chr12:45228819-45228820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140641060	chr12:45228936-45228937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147113304	chr12:45228989-45228990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377238969	chr12:45228996-45228997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561107063	chr12:45229032-45229033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528383428	chr12:45229035-45229036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540093417	chr12:45229095-45229096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564587495	chr12:45229103-45229104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531975277	chr12:45229107-45229108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550296976	chr12:45229111-45229112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568839199	chr12:45229143-45229144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138512081	chr12:45229165-45229166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142702250	chr12:45229200-45229201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567808006	chr12:45229243-45229244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12230196	chr12:45229251-45229252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535340906	chr12:45229285-45229286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147343000	chr12:45229305-45229306	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571707465	chr12:45229312-45229313	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73279144	chr12:45229322-45229323	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557456357	chr12:45229350-45229351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs137997922	chr12:45229459-45229460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:45224800-45228400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:45225200-45229000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:45225200-45231400	Enhancers	Fetal Intestine Small	intestine
11	chr12:45226200-45230600	Enhancers	Fetal Brain Male	brain
12	chr12:45226600-45228800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:45226800-45230000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:45227400-45230800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:45227600-45228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45227800-45228800	Weak transcription	Primary T cells from cord blood	blood
17	chr12:45227800-45228800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:45227800-45229000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:45227800-45229000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:45227800-45230400	Enhancers	Fetal Brain Female	brain
21	chr12:45228000-45229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:45228000-45229000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:45228000-45229600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:45228000-45231200	Enhancers	Fetal Intestine Large	intestine
25	chr12:45228000-45231400	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:45228400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:45228400-45229600	Enhancers	Esophagus	oesophagus
28	chr12:45228400-45229800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:45228400-45230200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:45228800-45230000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:45228800-45230000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:45228800-45230600	Enhancers	NHEK	skin
34	chr12:45228800-45231800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:45228800-45232000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:45228800-45234200	Enhancers	Primary T cells from cord blood	blood
37	chr12:45229000-45229400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:45229000-45229600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:45229000-45229600	Enhancers	Brain Angular Gyrus	brain
40	chr12:45229000-45229600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:45229000-45229600	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:45229000-45229800	Enhancers	Brain Anterior Caudate	brain
43	chr12:45229000-45229800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:45229000-45229800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:45229000-45230000	Enhancers	Brain Hippocampus Middle	brain
46	chr12:45229000-45230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:45229000-45231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:45229000-45231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:45229200-45229600	Enhancers	Pancreas	Pancrea
50	chr12:45229200-45229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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