Variant report

Variant	esv1826417
Chromosome Location	chr12:1193024-1200386
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	chr12:1057331..1059748-chr12:1192287..1193829,2	MCF-7	breast:
2	chr12:1099164..1100750-chr12:1199458..1202097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250132	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376333844	chr12:1193030-1193031	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528444245	chr12:1193063-1193064	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11061627	chr12:1193106-1193107	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189537166	chr12:1193204-1193205	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371515960	chr12:1193213-1193214	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572804624	chr12:1193224-1193225	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546317955	chr12:1193232-1193233	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377452565	chr12:1193235-1193236	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144854292	chr12:1193306-1193307	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74057005	chr12:1193361-1193362	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35619011	chr12:1193363-1193364	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556705473	chr12:1193369-1193370	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200389800	chr12:1193379-1193380	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532198092	chr12:1193413-1193414	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577962138	chr12:1193462-1193463	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545248641	chr12:1193481-1193482	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147926410	chr12:1193577-1193578	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527652626	chr12:1193638-1193639	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542592385	chr12:1193648-1193649	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59087985	chr12:1193710-1193711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35562585	chr12:1193755-1193756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201933287	chr12:1193757-1193758	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192834701	chr12:1193765-1193766	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549758054	chr12:1193773-1193774	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9783437	chr12:1193786-1193787	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532459361	chr12:1193790-1193791	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4765712	chr12:1193804-1193805	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184363820	chr12:1193819-1193820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11378427	chr12:1193836-1193837	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs397768908	chr12:1193846-1193847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78331360	chr12:1193847-1193848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536280493	chr12:1193919-1193920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554534076	chr12:1193943-1193944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs148972926	chr12:1193948-1193949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs199730670	chr12:1193955-1193956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143723247	chr12:1193976-1193977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537144290	chr12:1193986-1193987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189356617	chr12:1193988-1193989	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567615433	chr12:1193991-1193992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181941975	chr12:1194015-1194016	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149894017	chr12:1194035-1194036	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184655256	chr12:1194044-1194045	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148101306	chr12:1194068-1194069	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572390985	chr12:1194107-1194108	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189054333	chr12:1194114-1194115	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7955130	chr12:1194138-1194139	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531715881	chr12:1194145-1194146	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7969678	chr12:1194168-1194169	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543858654	chr12:1194177-1194178	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs58387554	chr12:1194178-1194179	Enhancers Weak transcription Active TSS	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1153400-1200400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:1163800-1200200	Weak transcription	Ovary	ovary
3	chr12:1174000-1196200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:1174200-1201600	Weak transcription	A549	lung
5	chr12:1175200-1211600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:1179400-1193400	Weak transcription	HUVEC	blood vessel
7	chr12:1179800-1195000	Weak transcription	Lung	lung
8	chr12:1180200-1199600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:1180200-1201800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:1183800-1194400	Weak transcription	Fetal Stomach	stomach
11	chr12:1183800-1232000	Weak transcription	Pancreas	Pancrea
12	chr12:1187400-1194400	Weak transcription	NHEK	skin
13	chr12:1187400-1200400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:1187600-1201600	Weak transcription	Osteobl	bone
15	chr12:1187600-1212200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:1188000-1212400	Weak transcription	Esophagus	oesophagus
17	chr12:1191200-1193600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:1191200-1209600	Weak transcription	HMEC	breast
19	chr12:1191800-1194400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:1192000-1193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:1192000-1193400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:1192000-1220800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:1192200-1193200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:1192200-1193200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:1192200-1193200	Flanking Active TSS	Fetal Brain Male	brain
26	chr12:1192200-1193400	Active TSS	Aorta	Aorta
27	chr12:1192200-1193400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:1192200-1193400	Enhancers	NH-A	brain
29	chr12:1192200-1194000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:1192400-1193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:1192400-1193400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:1192400-1193400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:1192400-1193400	Active TSS	Stomach Smooth Muscle	stomach
34	chr12:1192400-1194000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:1192600-1193200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:1192600-1193200	Enhancers	Fetal Lung	lung
37	chr12:1192600-1193400	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:1192600-1193400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:1192600-1193600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:1192600-1205600	Weak transcription	Left Ventricle	heart
41	chr12:1192600-1238400	Weak transcription	Gastric	stomach
42	chr12:1192800-1193200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:1192800-1193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:1192800-1193400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:1192800-1193400	Active TSS	Brain Hippocampus Middle	brain
46	chr12:1192800-1193400	Enhancers	NHDF-Ad	bronchial
47	chr12:1192800-1193600	Active TSS	Brain Anterior Caudate	brain
48	chr12:1192800-1193800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:1192800-1280800	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:1193000-1193200	Flanking Active TSS	Brain Angular Gyrus	brain

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