Variant report

Variant	esv3480297
Chromosome Location	chr12:12024485-12028983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12028553..12032107-chr12:12033393..12035272,3	MCF-7	breast:
2	chr11:62608627..62609481-chr12:12025415..12025915,2	NB4	blood:
3	chr12:12026018..12028025-chr12:12033109..12035684,2	MCF-7	breast:
4	chr12:12028150..12030746-chr12:12035648..12039846,3	MCF-7	breast:
5	chr12:11730343..11732400-chr12:12028569..12030434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000139083	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575507696	chr12:12024509-12024510	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536186832	chr12:12024553-12024554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77435044	chr12:12024554-12024555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183374706	chr12:12024575-12024576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573320405	chr12:12024593-12024594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187713502	chr12:12024618-12024619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148268150	chr12:12024728-12024729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141309060	chr12:12024767-12024768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544813141	chr12:12024783-12024784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562907176	chr12:12024870-12024871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530302313	chr12:12024881-12024882	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540977107	chr12:12024932-12024933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548632869	chr12:12024972-12024973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193167677	chr12:12024994-12024995	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560412531	chr12:12025005-12025006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528118516	chr12:12025015-12025016	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150803340	chr12:12025024-12025025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77532135	chr12:12025051-12025052	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74060891	chr12:12025060-12025061	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183325169	chr12:12025083-12025084	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188386586	chr12:12025090-12025091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2238132	chr12:12025110-12025111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554608516	chr12:12025135-12025136	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192662491	chr12:12025150-12025151	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534188501	chr12:12025153-12025154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145071760	chr12:12025185-12025186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577432803	chr12:12025213-12025214	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535118965	chr12:12025226-12025227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183769117	chr12:12025234-12025235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74412977	chr12:12025240-12025241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2739091	chr12:12025363-12025364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs368670756	chr12:12025429-12025430	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201652767	chr12:12025439-12025440	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57357001	chr12:12025449-12025450	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2710297	chr12:12025477-12025478	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373098943	chr12:12025492-12025493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564147303	chr12:12025515-12025516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529024688	chr12:12025537-12025538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560425049	chr12:12025541-12025542	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527948705	chr12:12025543-12025544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539856201	chr12:12025576-12025577	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188145782	chr12:12025577-12025578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549082967	chr12:12025591-12025592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550449097	chr12:12025619-12025620	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568925162	chr12:12025626-12025627	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529858212	chr12:12025630-12025631	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377373688	chr12:12025645-12025646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566317521	chr12:12025684-12025685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114150269	chr12:12025723-12025724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191103142	chr12:12025761-12025762	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
2	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
7	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:12018800-12027200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:12019000-12026400	Strong transcription	Fetal Thymus	thymus
10	chr12:12019400-12027000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:12019600-12024800	Strong transcription	Dnd41	blood
12	chr12:12019600-12026800	Strong transcription	Primary B cells from cord blood	blood
13	chr12:12019600-12028000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:12019600-12028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:12019600-12028200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:12019600-12028200	Weak transcription	Stomach Mucosa	stomach
17	chr12:12019600-12030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:12019600-12030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:12019800-12025800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:12019800-12026800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:12019800-12026800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:12019800-12027000	Strong transcription	Liver	Liver
23	chr12:12019800-12027200	Strong transcription	GM12878-XiMat	blood
24	chr12:12019800-12030400	Weak transcription	Fetal Heart	heart
25	chr12:12019800-12031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:12020000-12026000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:12020000-12028200	Weak transcription	Psoas Muscle	Psoas
28	chr12:12020000-12028400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:12020000-12031000	Weak transcription	HepG2	liver
30	chr12:12020000-12037400	Weak transcription	Fetal Brain Female	brain
31	chr12:12020200-12028200	Weak transcription	A549	lung
32	chr12:12020200-12039600	Weak transcription	Fetal Kidney	kidney
33	chr12:12020400-12025000	Strong transcription	Thymus	Thymus
34	chr12:12020400-12026000	Strong transcription	Fetal Stomach	stomach
35	chr12:12020400-12027200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:12020400-12027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:12020600-12024800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:12020600-12025200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:12020600-12025400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:12020600-12026400	Strong transcription	Fetal Intestine Large	intestine
41	chr12:12020800-12025200	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:12020800-12025400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:12021000-12025600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:12021000-12026600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:12021200-12025200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:12021200-12026000	Strong transcription	Fetal Intestine Small	intestine
47	chr12:12021400-12025400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:12021400-12026200	Weak transcription	HMEC	breast
49	chr12:12021400-12030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:12021600-12025600	Strong transcription	Rectal Mucosa Donor 31	rectum

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