Variant report

Variant	esv18830
Chromosome Location	chr12:1304444-1305402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1285165..1287754-chr12:1303919..1306724,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536737565	chr12:1304515-1304516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554732619	chr12:1304555-1304556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576326440	chr12:1304563-1304564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537197778	chr12:1304593-1304594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550916676	chr12:1304626-1304627	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558902077	chr12:1304628-1304629	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74396250	chr12:1304653-1304654	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189405777	chr12:1304664-1304665	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180902427	chr12:1304665-1304666	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559278889	chr12:1304666-1304667	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574479883	chr12:1304704-1304705	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558542840	chr12:1304819-1304820	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541922894	chr12:1304847-1304848	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563015059	chr12:1304909-1304910	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531790442	chr12:1304948-1304949	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116231940	chr12:1304955-1304956	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185841548	chr12:1304959-1304960	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201356889	chr12:1304973-1304974	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112051456	chr12:1304974-1304975	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80349129	chr12:1304977-1304978	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150995133	chr12:1305041-1305042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5795962	chr12:1305042-1305043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201553364	chr12:1305044-1305045	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113121357	chr12:1305045-1305046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374432159	chr12:1305052-1305053	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397851267	chr12:1305053-1305054	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547511548	chr12:1305086-1305087	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370181338	chr12:1305095-1305096	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557224974	chr12:1305148-1305149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575907371	chr12:1305150-1305151	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528266177	chr12:1305228-1305229	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566080767	chr12:1305269-1305270	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536225368	chr12:1305285-1305286	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569673679	chr12:1305370-1305371	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183309833	chr12:1305379-1305380	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1237400-1313800	Weak transcription	Small Intestine	intestine
2	chr12:1241200-1306400	Weak transcription	Dnd41	blood
3	chr12:1241200-1307200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:1241400-1307800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:1241800-1326600	Weak transcription	Pancreas	Pancrea
6	chr12:1263200-1306600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:1263400-1305800	Weak transcription	Thymus	Thymus
8	chr12:1268800-1313600	Weak transcription	Ovary	ovary
9	chr12:1276600-1305600	Weak transcription	Fetal Brain Female	brain
10	chr12:1277600-1305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:1278600-1306000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:1281200-1313600	Weak transcription	Fetal Kidney	kidney
13	chr12:1282200-1313800	Weak transcription	Hela-S3	cervix
14	chr12:1283200-1305000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:1283200-1313600	Weak transcription	Aorta	Aorta
16	chr12:1283400-1308000	Weak transcription	Esophagus	oesophagus
17	chr12:1283400-1309600	Weak transcription	Gastric	stomach
18	chr12:1283400-1312600	Weak transcription	Brain Germinal Matrix	brain
19	chr12:1283400-1313600	Weak transcription	Right Ventricle	heart
20	chr12:1283400-1313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:1283600-1313000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:1283800-1313600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:1283800-1315200	Weak transcription	HSMMtube	muscle
24	chr12:1284000-1304600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:1284000-1312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:1284000-1313800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:1286000-1313600	Weak transcription	Psoas Muscle	Psoas
28	chr12:1287200-1312600	Weak transcription	Spleen	Spleen
29	chr12:1290200-1306600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:1290800-1305400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:1293000-1306600	Weak transcription	A549	lung
32	chr12:1293200-1305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:1294400-1305600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:1294400-1313600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:1294600-1306400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:1294600-1311600	Weak transcription	Left Ventricle	heart
37	chr12:1294800-1306400	Weak transcription	NH-A	brain
38	chr12:1295800-1307400	Weak transcription	HepG2	liver
39	chr12:1296000-1306400	Weak transcription	GM12878-XiMat	blood
40	chr12:1296400-1306200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:1296800-1305600	Weak transcription	Fetal Stomach	stomach
42	chr12:1297200-1305800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:1297400-1312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:1297600-1312400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:1298200-1307400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:1298600-1305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:1298600-1306600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:1299200-1307800	Weak transcription	Lung	lung
49	chr12:1299200-1313600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:1299400-1306600	Weak transcription	Fetal Muscle Leg	muscle

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