Variant report

Variant	esv3449712
Chromosome Location	chr12:1229591-1232889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73039020	chr12:1229635-1229636	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73039022	chr12:1229652-1229653	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34688286	chr12:1229665-1229666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142416460	chr12:1229666-1229667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568895951	chr12:1229700-1229701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183907593	chr12:1229703-1229704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370435006	chr12:1229709-1229710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187621244	chr12:1229762-1229763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150210124	chr12:1229775-1229776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192061258	chr12:1229842-1229843	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553252702	chr12:1229857-1229858	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138732689	chr12:1229919-1229920	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4554955	chr12:1229978-1229979	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557611451	chr12:1229985-1229986	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548410896	chr12:1230131-1230132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575271330	chr12:1230163-1230164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545784748	chr12:1230174-1230175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149337807	chr12:1230190-1230191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561007947	chr12:1230202-1230203	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184331047	chr12:1230211-1230212	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144621222	chr12:1230219-1230220	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113607570	chr12:1230264-1230265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4130736	chr12:1230267-1230268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561704726	chr12:1230325-1230326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529059818	chr12:1230370-1230371	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138120053	chr12:1230372-1230373	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562760511	chr12:1230373-1230374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142611221	chr12:1230374-1230375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551351105	chr12:1230383-1230384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574695816	chr12:1230394-1230395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527364347	chr12:1230395-1230396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547197112	chr12:1230399-1230400	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560499460	chr12:1230409-1230410	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568589173	chr12:1230422-1230423	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536031901	chr12:1230432-1230433	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74057030	chr12:1230483-1230484	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569207406	chr12:1230511-1230512	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539456392	chr12:1230546-1230547	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143659576	chr12:1230547-1230548	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557695956	chr12:1230566-1230567	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573307908	chr12:1230603-1230604	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79698423	chr12:1230630-1230631	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187122787	chr12:1230649-1230650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148730070	chr12:1230658-1230659	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573792981	chr12:1230659-1230660	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4315144	chr12:1230688-1230689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115716494	chr12:1230690-1230691	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577970973	chr12:1230734-1230735	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375775630	chr12:1230735-1230736	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80108528	chr12:1230746-1230747	Weak transcription ZNF genes & repeats Strong 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:146 , 50 per page) page: 1 2 3

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	chr12:1213600-1231600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:1213600-1231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:1213600-1239800	Weak transcription	Brain Anterior Caudate	brain
19	chr12:1213600-1277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:1213800-1231600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:1213800-1264400	Weak transcription	Fetal Kidney	kidney
22	chr12:1214000-1241000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:1216200-1250400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:1217600-1231800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:1217600-1277200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:1218000-1231600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:1218000-1231800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:1218200-1230400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:1218800-1231800	Weak transcription	Dnd41	blood
30	chr12:1220600-1238600	Weak transcription	A549	lung
31	chr12:1221400-1260400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:1221600-1238600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:1221600-1261800	Weak transcription	Fetal Stomach	stomach
34	chr12:1221800-1231800	Weak transcription	Thymus	Thymus
35	chr12:1221800-1232000	Weak transcription	Placenta	Placenta
36	chr12:1221800-1232000	Weak transcription	Fetal Thymus	thymus
37	chr12:1221800-1233200	Weak transcription	Spleen	Spleen
38	chr12:1221800-1235400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:1221800-1239000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:1221800-1239200	Weak transcription	Liver	Liver
41	chr12:1221800-1239400	Weak transcription	Right Ventricle	heart
42	chr12:1221800-1241000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:1221800-1260800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:1221800-1277000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:1221800-1277200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:1221800-1283000	Weak transcription	Esophagus	oesophagus
47	chr12:1221800-1301800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:1222000-1252000	Weak transcription	Left Ventricle	heart
49	chr12:1222600-1232000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:1222600-1233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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