Variant report

Variant	esv3385578
Chromosome Location	chr12:1231624-1231882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544421467	chr12:1231629-1231630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60706957	chr12:1231639-1231640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58109568	chr12:1231641-1231642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369785994	chr12:1231642-1231643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373322373	chr12:1231645-1231646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377357459	chr12:1231647-1231648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370860480	chr12:1231648-1231649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374373798	chr12:1231649-1231650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56689219	chr12:1231651-1231652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377406807	chr12:1231653-1231654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576655141	chr12:1231654-1231655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58095808	chr12:1231656-1231657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370802490	chr12:1231657-1231658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528155431	chr12:1231666-1231667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375020807	chr12:1231667-1231668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59439532	chr12:1231669-1231670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58321783	chr12:1231673-1231674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60696995	chr12:1231674-1231675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201214905	chr12:1231675-1231676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368680187	chr12:1231681-1231682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56278551	chr12:1231683-1231684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542557854	chr12:1231684-1231685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200910418	chr12:1231687-1231688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368331788	chr12:1231688-1231689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201842310	chr12:1231689-1231690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373809344	chr12:1231691-1231692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367651381	chr12:1231693-1231694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372242757	chr12:1231695-1231696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375246171	chr12:1231697-1231698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369319387	chr12:1231699-1231700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372023646	chr12:1231703-1231704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201651961	chr12:1231711-1231712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377003713	chr12:1231712-1231713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61914264	chr12:1231713-1231714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60485380	chr12:1231723-1231724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57997956	chr12:1231727-1231728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372647413	chr12:1231732-1231733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61192445	chr12:1231735-1231736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533331178	chr12:1231736-1231737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58695975	chr12:1231737-1231738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370006281	chr12:1231738-1231739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12301993	chr12:1231741-1231742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527687642	chr12:1231747-1231748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549317226	chr12:1231748-1231749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55872089	chr12:1231759-1231760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200027006	chr12:1231761-1231762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56923388	chr12:1231765-1231766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56052020	chr12:1231767-1231768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112918010	chr12:1231773-1231774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377454664	chr12:1231775-1231776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	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
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1183800-1232000	Weak transcription	Pancreas	Pancrea
2	chr12:1192600-1238400	Weak transcription	Gastric	stomach
3	chr12:1192800-1280800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:1200800-1238600	Weak transcription	Fetal Lung	lung
5	chr12:1201000-1241000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:1206800-1260600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:1209000-1238600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:1209800-1261600	Weak transcription	Aorta	Aorta
9	chr12:1210600-1240400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:1211800-1232000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:1212200-1231800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:1212600-1231800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:1213000-1232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:1213000-1258600	Weak transcription	Lung	lung
15	chr12:1213000-1266200	Weak transcription	Ovary	ovary
16	chr12:1213600-1231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:1213600-1239800	Weak transcription	Brain Anterior Caudate	brain
18	chr12:1213600-1277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:1213800-1264400	Weak transcription	Fetal Kidney	kidney
20	chr12:1214000-1241000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:1216200-1250400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:1217600-1231800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:1217600-1277200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:1218000-1231800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:1218800-1231800	Weak transcription	Dnd41	blood
26	chr12:1220600-1238600	Weak transcription	A549	lung
27	chr12:1221400-1260400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:1221600-1238600	Weak transcription	Fetal Intestine Large	intestine
29	chr12:1221600-1261800	Weak transcription	Fetal Stomach	stomach
30	chr12:1221800-1231800	Weak transcription	Thymus	Thymus
31	chr12:1221800-1232000	Weak transcription	Placenta	Placenta
32	chr12:1221800-1232000	Weak transcription	Fetal Thymus	thymus
33	chr12:1221800-1233200	Weak transcription	Spleen	Spleen
34	chr12:1221800-1235400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:1221800-1239000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:1221800-1239200	Weak transcription	Liver	Liver
37	chr12:1221800-1239400	Weak transcription	Right Ventricle	heart
38	chr12:1221800-1241000	Weak transcription	Brain Angular Gyrus	brain
39	chr12:1221800-1260800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:1221800-1277000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:1221800-1277200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:1221800-1283000	Weak transcription	Esophagus	oesophagus
43	chr12:1221800-1301800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:1222000-1252000	Weak transcription	Left Ventricle	heart
45	chr12:1222600-1232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:1222600-1233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:1222600-1241000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:1222800-1231800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:1225200-1250400	Weak transcription	Adipose Nuclei	Adipose
50	chr12:1225200-1250600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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