Variant report

Variant	esv3501324
Chromosome Location	chr12:1423464-1425347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1415506..1418642-chr12:1420432..1423739,3	K562	blood:
2	chr12:1419089..1421502-chr12:1422085..1425058,2	K562	blood:
3	chr12:1424048..1426819-chr12:1445516..1448128,2	MCF-7	breast:
4	chr12:1409715..1412266-chr12:1421688..1423807,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7301327	chr12:1423611-1423612	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7301330	chr12:1423628-1423629	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372940140	chr12:1423642-1423643	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532173582	chr12:1423674-1423675	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79758494	chr12:1423683-1423684	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572466999	chr12:1423695-1423696	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182428138	chr12:1423726-1423727	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149598787	chr12:1423728-1423729	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561096790	chr12:1423748-1423749	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186765221	chr12:1423749-1423750	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543781267	chr12:1423914-1423915	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76638148	chr12:1423915-1423916	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532389946	chr12:1423927-1423928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77001812	chr12:1423934-1423935	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559272822	chr12:1423945-1423946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529779006	chr12:1424002-1424003	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116464042	chr12:1424024-1424025	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs193150857	chr12:1424031-1424032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554859547	chr12:1424058-1424059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538045420	chr12:1424095-1424096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73034905	chr12:1424099-1424100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184065372	chr12:1424128-1424129	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148780805	chr12:1424201-1424202	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549564648	chr12:1424247-1424248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111973110	chr12:1424279-1424280	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs188616462	chr12:1424290-1424291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76828926	chr12:1424373-1424374	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111547792	chr12:1424401-1424402	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542919193	chr12:1424418-1424419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571294444	chr12:1424434-1424435	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576352542	chr12:1424435-1424436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538666972	chr12:1424443-1424444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140002174	chr12:1424458-1424459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145412560	chr12:1424474-1424475	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs193170404	chr12:1424475-1424476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577084428	chr12:1424503-1424504	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546402827	chr12:1424505-1424506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143817041	chr12:1424507-1424508	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377130345	chr12:1424508-1424509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184238844	chr12:1424526-1424527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559119736	chr12:1424550-1424551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529680252	chr12:1424551-1424552	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547926230	chr12:1424569-1424570	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572998065	chr12:1424621-1424622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563045393	chr12:1424665-1424666	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7316388	chr12:1424666-1424667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147676376	chr12:1424671-1424672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370258298	chr12:1424673-1424674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs7967663	chr12:1424691-1424692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188652869	chr12:1424705-1424706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1369400-1427600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
4	chr12:1387600-1441400	Weak transcription	HepG2	liver
5	chr12:1391200-1434000	Weak transcription	A549	lung
6	chr12:1391600-1427800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:1393200-1427400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:1395200-1428000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:1399000-1427600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:1399000-1428400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:1399600-1426600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:1400000-1427600	Weak transcription	Placenta	Placenta
13	chr12:1400400-1426800	Weak transcription	HMEC	breast
14	chr12:1400400-1427200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:1400400-1427200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:1400600-1425200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:1401000-1427400	Weak transcription	HSMM	muscle
18	chr12:1401200-1425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:1401200-1427200	Weak transcription	Liver	Liver
20	chr12:1401600-1427200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:1402600-1427800	Weak transcription	Small Intestine	intestine
22	chr12:1404800-1427400	Weak transcription	Brain Anterior Caudate	brain
23	chr12:1404800-1442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:1407000-1427600	Weak transcription	Fetal Kidney	kidney
25	chr12:1407800-1424200	Weak transcription	Fetal Stomach	stomach
26	chr12:1409600-1424000	Weak transcription	Fetal Intestine Large	intestine
27	chr12:1409600-1424200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:1410200-1426800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:1410600-1426800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:1410800-1427200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:1412000-1428000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:1413800-1424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:1413800-1427400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:1413800-1447600	Weak transcription	Gastric	stomach
35	chr12:1414600-1426800	Weak transcription	NHDF-Ad	bronchial
36	chr12:1414800-1426800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:1414800-1427400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:1415400-1424200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:1415600-1427600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:1416200-1424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:1416200-1427400	Weak transcription	Aorta	Aorta
42	chr12:1416200-1434400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:1416400-1434000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:1416600-1423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:1418200-1427400	Weak transcription	Adipose Nuclei	Adipose
46	chr12:1418200-1427800	Weak transcription	Lung	lung
47	chr12:1418400-1424000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:1418400-1427400	Weak transcription	Fetal Brain Male	brain
49	chr12:1418600-1424200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:1419800-1427800	Weak transcription	Left Ventricle	heart

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