Variant report

Variant	esv988269
Chromosome Location	chr12:548400-556751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:552972..554536-chr12:556070..557992,2	MCF-7	breast:
2	chr12:549410..550324-chr12:655836..656812,2	K562	blood:
3	chr12:551637..552181-chr12:1692709..1693253,2	K562	blood:
4	chr12:553314..555353-chr12:563794..566581,2	MCF-7	breast:
5	chr12:551206..552180-chr12:655785..656728,9	K562	blood:
6	chr12:552972..554536-chr12:556070..557992,2	MCF-7	breast:
7	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
8	chr12:551367..552157-chr12:655845..657279,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	chromatin interactions

Extended variants
information (count: 366 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57196836	chr12:548421-548422	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538263104	chr12:548426-548427	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556497365	chr12:548428-548429	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11062986	chr12:548457-548458	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533406985	chr12:548471-548472	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535936904	chr12:548484-548485	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552810762	chr12:548526-548527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184266404	chr12:548536-548537	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146869536	chr12:548547-548548	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543043477	chr12:548557-548558	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575190408	chr12:548560-548561	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545698821	chr12:548561-548562	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10774191	chr12:548658-548659	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151089178	chr12:548684-548685	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371144805	chr12:548685-548686	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546742624	chr12:548688-548689	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140991943	chr12:548735-548736	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530189863	chr12:548807-548808	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150208943	chr12:548844-548845	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574134290	chr12:548872-548873	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138730649	chr12:548894-548895	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374793513	chr12:548900-548901	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541741197	chr12:548901-548902	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552925886	chr12:548948-548949	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200175866	chr12:548955-548956	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200955649	chr12:548956-548957	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575813668	chr12:548957-548958	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201619947	chr12:548959-548960	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571122934	chr12:548977-548978	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147031142	chr12:548984-548985	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190738798	chr12:549007-549008	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138229636	chr12:549054-549055	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145541444	chr12:549070-549071	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34129056	chr12:549198-549199	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61916593	chr12:549243-549244	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556595477	chr12:549244-549245	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200815607	chr12:549255-549256	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9669365	chr12:549268-549269	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549490374	chr12:549318-549319	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545367943	chr12:549368-549369	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557647327	chr12:549371-549372	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372037248	chr12:549422-549423	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561170640	chr12:549432-549433	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561846756	chr12:549472-549473	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534805418	chr12:549495-549496	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528938184	chr12:549518-549519	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540083515	chr12:549531-549532	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561917225	chr12:549535-549536	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4980820	chr12:549540-549541	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs542318643	chr12:549548-549549	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:512000-549600	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:512200-557800	Weak transcription	Fetal Heart	heart
3	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
4	chr12:522000-551800	Weak transcription	NHEK	skin
5	chr12:524400-549800	Weak transcription	NHDF-Ad	bronchial
6	chr12:524400-550600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:524400-553600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:524400-556800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:526200-557800	Weak transcription	Stomach Mucosa	stomach
10	chr12:528000-552600	Weak transcription	Osteobl	bone
11	chr12:528600-549400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:528600-550800	Weak transcription	Fetal Kidney	kidney
13	chr12:528600-551800	Weak transcription	Aorta	Aorta
14	chr12:528600-552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:528600-560200	Weak transcription	Colonic Mucosa	Colon
16	chr12:528600-562800	Weak transcription	Right Ventricle	heart
17	chr12:531200-551000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:531200-551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:531200-551600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:531400-551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:531400-551400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:531400-551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:531400-551600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:531400-551600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:531400-551600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:531400-551600	Strong transcription	Dnd41	blood
27	chr12:531400-552000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:531400-552000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:531400-552000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:531400-552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:532000-554400	Weak transcription	Small Intestine	intestine
32	chr12:532600-555400	Weak transcription	K562	blood
33	chr12:534600-552200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:534800-551600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:534800-554200	Weak transcription	Esophagus	oesophagus
36	chr12:535000-558000	Weak transcription	Gastric	stomach
37	chr12:535400-551800	Weak transcription	Spleen	Spleen
38	chr12:535600-552600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:535800-553600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:536800-552000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:537800-551400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:537800-551600	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:538200-548400	Strong transcription	Fetal Thymus	thymus
44	chr12:539400-550800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:539600-550600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:540400-548400	Strong transcription	Adipose Nuclei	Adipose
47	chr12:541400-550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:541400-553200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:541600-551400	Weak transcription	Brain Angular Gyrus	brain
50	chr12:541800-551800	Weak transcription	Ovary	ovary

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