Variant report

Variant	nsv975606
Chromosome Location	chr12:48748764-48784504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:48755764-48755882	K562	blood:	n/a	n/a
2	ARID3A	chr12:48750182-48750569	HepG2	liver:	n/a	n/a
3	ATF2	chr12:48783039-48783531	GM12878	blood:	n/a	n/a
4	ATF3	chr12:48773621-48773847	K562	blood:	n/a	n/a
5	BHLHE40	chr12:48752933-48753000	K562	blood:	n/a	n/a
6	BRCA1	chr12:48773565-48773922	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:48773604-48773914	IMR90	lung:	n/a	chr12:48773763-48773774
8	CEBPB	chr12:48773608-48773941	A549	lung:	n/a	chr12:48773763-48773774
9	CEBPB	chr12:48773587-48773940	HepG2	liver:	n/a	chr12:48773763-48773774
10	CEBPB	chr12:48773344-48774265	Hela-S3	cervix:	n/a	chr12:48773763-48773774
11	CEBPB	chr12:48773618-48773912	K562	blood:	n/a	chr12:48773763-48773774
12	CHD2	chr12:48773627-48773957	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr12:48768055-48768156	GM13977	blood:	n/a	n/a
14	CTCF	chr12:48768040-48768190	SAEC	small airway:	n/a	n/a
15	CTCF	chr12:48768163-48768174	GM12892	blood:	n/a	n/a
16	CTCF	chr12:48768080-48768230	SAEC	small airway:	n/a	n/a
17	CTCF	chr12:48768020-48768170	GM12875	blood:	n/a	n/a
18	CTCF	chr12:48768100-48768210	NHEK	skin:	n/a	n/a
19	CTCF	chr12:48768060-48768210	NHEK	skin:	n/a	n/a
20	CTCF	chr12:48768440-48768590	GM12873	blood:	n/a	n/a
21	CTCF	chr12:48768078-48768140	GM10248	blood:	n/a	n/a
22	CTCF	chr12:48768043-48768165	K562	blood:	n/a	n/a
23	CTCF	chr12:48768101-48768161	GM12878	blood:	n/a	n/a
24	CTCF	chr12:48754440-48754590	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:48749800-48749950	GM12875	blood:	n/a	n/a
26	CTCF	chr12:48768080-48768230	GM12864	blood:	n/a	n/a
27	CTCF	chr12:48768060-48768210	HMEC	breast:	n/a	n/a
28	CTCF	chr12:48768080-48768230	A549	lung:	n/a	n/a
29	CTCF	chr12:48767979-48768275	K562	blood:	n/a	n/a
30	CTCF	chr12:48779014-48779037	GM20000	blood:	n/a	n/a
31	CTCF	chr12:48778971-48779001	GM20000	blood:	n/a	n/a
32	CTCF	chr12:48767982-48768260	GM12878	blood:	n/a	n/a
33	CTCF	chr12:48766868-48766904	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr12:48768092-48768128	GM13976	blood:	n/a	n/a
35	CTCF	chr12:48768035-48768221	Hela-S3	cervix:	n/a	n/a
36	E2F4	chr12:48773591-48773803	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr12:48782379-48782442	MCF10A-Er-Src	breast:	n/a	n/a
38	ELK1	chr12:48773686-48773870	Hela-S3	cervix:	n/a	n/a
39	EP300	chr12:48755516-48755751	K562	blood:	n/a	n/a
40	EP300	chr12:48773295-48773958	Hela-S3	cervix:	n/a	n/a
41	EP300	chr12:48750118-48750539	HepG2	liver:	n/a	chr12:48750460-48750469
42	FAM48A	chr12:48783345-48783523	GM12878	blood:	n/a	n/a
43	FOS	chr12:48750114-48750648	MCF10A-Er-Src	breast:	n/a	chr12:48750460-48750470 chr12:48750462-48750469 chr12:48750459-48750471 chr12:48750460-48750470 chr12:48750461-48750469 chr12:48750461-48750469
44	FOS	chr12:48773580-48773928	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:48773545-48773943	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:48782815-48783049	MCF10A-Er-Src	breast:	n/a	chr12:48782889-48782896 chr12:48782989-48783001 chr12:48782991-48782999 chr12:48782888-48782896
47	FOS	chr12:48774447-48774754	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:48750114-48750642	MCF10A-Er-Src	breast:	n/a	chr12:48750460-48750470 chr12:48750462-48750469 chr12:48750459-48750471 chr12:48750460-48750470 chr12:48750461-48750469 chr12:48750461-48750469
49	FOS	chr12:48782238-48783181	MCF10A-Er-Src	breast:	n/a	chr12:48782420-48782432 chr12:48782425-48782433 chr12:48782503-48782512 chr12:48782889-48782896 chr12:48782989-48783001 chr12:48782991-48782999 chr12:48782888-48782896 chr12:48782421-48782431 chr12:48782422-48782430
50	FOS	chr12:48782273-48782538	MCF10A-Er-Src	breast:	n/a	chr12:48782420-48782432 chr12:48782425-48782433 chr12:48782503-48782512 chr12:48782421-48782431 chr12:48782422-48782430

No.	Distal block	Cell Line	Cell type
1	chr12:48753396..48755758-chr12:48761322..48764129,2	MCF-7	breast:
2	chr12:48764324..48767170-chr12:48768369..48771517,3	MCF-7	breast:
3	chr12:48745005..48747497-chr12:48748045..48749773,2	K562	blood:
4	chr12:48782012..48785596-chr12:48788294..48790802,3	K562	blood:
5	chr12:48743415..48745587-chr12:48758145..48761066,2	MCF-7	breast:
6	chr12:48753396..48755758-chr12:48761322..48764129,2	MCF-7	breast:
7	chr12:48748867..48750565-chr12:48755351..48756963,2	MCF-7	breast:
8	chr12:48756590..48758883-chr12:48788320..48790739,2	K562	blood:
9	chr12:48752580..48755236-chr12:48760694..48763424,2	K562	blood:
10	chr12:48743253..48745625-chr12:48768325..48770230,2	MCF-7	breast:
11	chr12:48735709..48737484-chr12:48748152..48750019,2	MCF-7	breast:
12	chr12:48764324..48767170-chr12:48768369..48771517,3	MCF-7	breast:
13	chr12:48592134..48593924-chr12:48746168..48749051,2	MCF-7	breast:
14	chr12:48744030..48746480-chr12:48749780..48752086,4	K562	blood:
15	chr12:48752580..48755236-chr12:48760694..48763424,2	K562	blood:
16	chr12:48746414..48748457-chr12:48755617..48758485,2	K562	blood:
17	chr12:48748002..48749847-chr12:48758555..48760339,2	K562	blood:
18	chr12:48741301..48746348-chr12:48747901..48753728,9	MCF-7	breast:
19	chr12:48750287..48752260-chr12:48753845..48756384,2	MCF-7	breast:
20	chr12:48740296..48746434-chr12:48748194..48754526,9	MCF-7	breast:
21	chr12:48604281..48606360-chr12:48747019..48749419,2	K562	blood:

Variant related genes	Relation type
ENSG00000269282	TF binding region
OR5BK1P	TF binding region
ZNF641	TF binding region
OR5BT1P	TF binding region
ENSG00000269282	chromatin interactions
ENSG00000269514	chromatin interactions
ENSG00000257735	chromatin interactions
ENSG00000257763	chromatin interactions
ENSG00000257792	chromatin interactions
ENSG00000167528	chromatin interactions

Extended variants
information (count: 925 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116478934	chr12:48748766-48748767	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs115913032	chr12:48748767-48748768	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370841580	chr12:48748772-48748773	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs372508041	chr12:48748811-48748812	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs190879837	chr12:48748818-48748819	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545999651	chr12:48748904-48748905	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs555903770	chr12:48748916-48748917	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs575964003	chr12:48748923-48748924	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373678801	chr12:48749003-48749004	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs143631296	chr12:48749010-48749011	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs527269659	chr12:48749137-48749138	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs540628502	chr12:48749143-48749144	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145684510	chr12:48749175-48749176	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532860543	chr12:48749199-48749200	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs149007072	chr12:48749215-48749216	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs143802881	chr12:48749243-48749244	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs182336668	chr12:48749263-48749264	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549698790	chr12:48749307-48749308	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566122207	chr12:48749327-48749328	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs535018372	chr12:48749380-48749381	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559595354	chr12:48749399-48749400	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs117696265	chr12:48749454-48749455	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs571727588	chr12:48749467-48749468	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs537131638	chr12:48749500-48749501	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs185896960	chr12:48749553-48749554	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191538436	chr12:48749576-48749577	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1489112	chr12:48749582-48749583	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148144187	chr12:48749612-48749613	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs377553804	chr12:48749641-48749642	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs574238301	chr12:48749686-48749687	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs142571434	chr12:48749693-48749694	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563893576	chr12:48749714-48749715	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201939666	chr12:48749761-48749762	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs146714137	chr12:48749818-48749819	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs543524012	chr12:48749957-48749958	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563921230	chr12:48750029-48750030	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182868056	chr12:48750079-48750080	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541651349	chr12:48750093-48750094	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367821586	chr12:48750125-48750126	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs58607953	chr12:48750147-48750148	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528743420	chr12:48750149-48750150	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138060836	chr12:48750170-48750171	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs571527851	chr12:48750250-48750251	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74087202	chr12:48750256-48750257	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550651007	chr12:48750277-48750278	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567382049	chr12:48750289-48750290	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535273317	chr12:48750291-48750292	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111640506	chr12:48750303-48750304	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs117119540	chr12:48750332-48750333	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143515627	chr12:48750434-48750435	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48745400-48755800	Weak transcription	Ovary	ovary
2	chr12:48745400-48757200	Weak transcription	Right Ventricle	heart
3	chr12:48745600-48750000	Weak transcription	NHEK	skin
4	chr12:48745600-48762400	Weak transcription	Aorta	Aorta
5	chr12:48745800-48750000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:48745800-48752200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:48746000-48749800	Weak transcription	A549	lung
8	chr12:48746000-48750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48746000-48750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:48746000-48752800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:48746000-48756600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:48746200-48749800	Weak transcription	HepG2	liver
13	chr12:48746200-48754600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:48746200-48756800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:48746200-48757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:48746400-48748800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:48746400-48749800	Weak transcription	Hela-S3	cervix
18	chr12:48746400-48752800	Weak transcription	Left Ventricle	heart
19	chr12:48746400-48753000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:48746400-48757800	Weak transcription	Right Atrium	heart
21	chr12:48746400-48759400	Weak transcription	Brain Substantia Nigra	brain
22	chr12:48746400-48760400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:48746400-48761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:48746600-48749600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:48746600-48753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:48746600-48755800	Weak transcription	Psoas Muscle	Psoas
27	chr12:48746600-48756400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:48746600-48762400	Weak transcription	Lung	lung
29	chr12:48746800-48751800	Weak transcription	Pancreas	Pancrea
30	chr12:48746800-48752200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:48746800-48755400	Weak transcription	K562	blood
32	chr12:48748200-48749000	Enhancers	HMEC	breast
33	chr12:48748400-48748800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:48748800-48749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:48748800-48750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:48749000-48750000	Weak transcription	HMEC	breast
37	chr12:48749600-48750800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:48749800-48750800	Enhancers	HepG2	liver
39	chr12:48749800-48751000	Enhancers	A549	lung
40	chr12:48749800-48751000	Enhancers	Hela-S3	cervix
41	chr12:48750000-48750400	Enhancers	HMEC	breast
42	chr12:48750000-48750800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:48750000-48750800	Enhancers	NHEK	skin
44	chr12:48750000-48751200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:48750200-48750600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:48750600-48751000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:48750800-48755800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:48751400-48751600	Enhancers	Thymus	Thymus
49	chr12:48752200-48752400	Enhancers	Fetal Intestine Small	intestine
50	chr12:48752200-48753000	Bivalent Enhancer	HepG2	liver

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