Variant report

Variant	esv1002676
Chromosome Location	chr12:1570806-1578110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1577937..1578888-chr12:1653877..1654562,2	MCF-7	breast:
2	chr12:1570379..1574393-chr12:1574873..1580232,6	K562	blood:
3	chr12:1574896..1578788-chr12:1580467..1583397,5	K562	blood:
4	chr12:1555691..1558581-chr12:1571205..1573342,2	K562	blood:
5	chr12:1571396..1573540-chr12:1576737..1578978,2	K562	blood:
6	chr12:1574896..1578285-chr12:1580467..1583397,5	K562	blood:
7	chr12:1571396..1573540-chr12:1576737..1578978,2	K562	blood:
8	chr12:1572175..1574157-chr12:1679717..1682384,2	K562	blood:
9	chr12:1570379..1574393-chr12:1574873..1580232,6	K562	blood:
10	chr12:1569039..1571648-chr12:1571859..1575051,3	K562	blood:
11	chr12:1565787..1568238-chr12:1569679..1572728,3	K562	blood:
12	chr12:1569039..1571648-chr12:1571859..1575051,3	K562	blood:
13	chr12:1576576..1578608-chr12:1579584..1581182,2	MCF-7	breast:
14	chr12:1571885..1573568-chr12:1607878..1609868,2	K562	blood:

No data

Extended variants
information (count: 295 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573515841	chr12:1570821-1570822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182795626	chr12:1570840-1570841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188957109	chr12:1570862-1570863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531124783	chr12:1570865-1570866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552486943	chr12:1570884-1570885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564500698	chr12:1571000-1571001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528732114	chr12:1571077-1571078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557671525	chr12:1571095-1571096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555748292	chr12:1571110-1571111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575484761	chr12:1571127-1571128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs193254930	chr12:1571230-1571231	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368819353	chr12:1571239-1571240	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76791887	chr12:1571291-1571292	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11612745	chr12:1571319-1571320	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145211058	chr12:1571367-1571368	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114677199	chr12:1571368-1571369	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561287928	chr12:1571384-1571385	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549224700	chr12:1571418-1571419	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139030734	chr12:1571468-1571469	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140595460	chr12:1571517-1571518	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73599922	chr12:1571519-1571520	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555121357	chr12:1571567-1571568	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573700269	chr12:1571573-1571574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540496443	chr12:1571580-1571581	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184746553	chr12:1571594-1571595	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76841527	chr12:1571614-1571615	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187554592	chr12:1571633-1571634	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531638213	chr12:1571636-1571637	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577247872	chr12:1571645-1571646	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546086030	chr12:1571654-1571655	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564840629	chr12:1571656-1571657	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565374876	chr12:1571659-1571660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528637318	chr12:1571699-1571700	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150466467	chr12:1571798-1571799	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570802058	chr12:1571833-1571834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138269382	chr12:1571887-1571888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112164331	chr12:1571901-1571902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369495341	chr12:1571930-1571931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546872600	chr12:1571966-1571967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569268839	chr12:1571985-1571986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192032418	chr12:1572003-1572004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371343905	chr12:1572047-1572048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536678610	chr12:1572101-1572102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113827907	chr12:1572102-1572103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551343499	chr12:1572111-1572112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573547228	chr12:1572116-1572117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59958241	chr12:1572134-1572135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184284760	chr12:1572161-1572162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189793872	chr12:1572175-1572176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534470597	chr12:1572178-1572179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ewing''s sarcoma	19144156	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:1531400-1574200	Weak transcription	Thymus	Thymus
3	chr12:1532400-1581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:1544800-1582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:1545000-1583000	Weak transcription	HepG2	liver
6	chr12:1546000-1582000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:1546600-1583200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:1552600-1582600	Weak transcription	A549	lung
9	chr12:1552800-1572200	Weak transcription	Fetal Brain Female	brain
10	chr12:1552800-1598000	Weak transcription	Esophagus	oesophagus
11	chr12:1553400-1572800	Weak transcription	Fetal Kidney	kidney
12	chr12:1553400-1582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:1553600-1572400	Weak transcription	Right Atrium	heart
14	chr12:1553600-1581800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:1554000-1582600	Weak transcription	Ovary	ovary
16	chr12:1554200-1572200	Weak transcription	Aorta	Aorta
17	chr12:1554200-1582600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:1554800-1574800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:1555200-1584200	Weak transcription	Spleen	Spleen
20	chr12:1555400-1582600	Weak transcription	Placenta	Placenta
21	chr12:1555400-1582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:1555800-1581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:1556000-1572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:1556200-1583000	Weak transcription	Hela-S3	cervix
25	chr12:1557600-1581800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:1558000-1582400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:1558000-1583000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:1558200-1571800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:1558200-1572200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:1558200-1574400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:1558200-1582000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:1558400-1574400	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:1558400-1599400	Weak transcription	Pancreas	Pancrea
34	chr12:1558600-1573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:1558600-1581400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:1558800-1574200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:1558800-1574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:1558800-1574800	Weak transcription	Fetal Stomach	stomach
39	chr12:1559800-1572800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:1559800-1582600	Weak transcription	Primary B cells from cord blood	blood
41	chr12:1560000-1572200	Weak transcription	Fetal Lung	lung
42	chr12:1560800-1575600	Weak transcription	Fetal Intestine Small	intestine
43	chr12:1562600-1574800	Weak transcription	Lung	lung
44	chr12:1563400-1582800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:1563800-1571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:1563800-1574600	Weak transcription	Liver	Liver
47	chr12:1563800-1574800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:1566400-1578200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:1566600-1581400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:1566600-1581600	Weak transcription	Monocytes-CD14+_RO01746	blood

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