Variant report

Variant	esv3414484
Chromosome Location	chr12:1194868-1200809
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	chr12:1099164..1100750-chr12:1199458..1202097,2	MCF-7	breast:

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

Extended variants
information (count: 114 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201454073	chr12:1194874-1194875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569584614	chr12:1194883-1194884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77055848	chr12:1194914-1194915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201567993	chr12:1195049-1195050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201074302	chr12:1195050-1195051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77427719	chr12:1195115-1195116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201596956	chr12:1195179-1195180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199903423	chr12:1195192-1195193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76512358	chr12:1195375-1195376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75271039	chr12:1195452-1195453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60305389	chr12:1195505-1195506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28681556	chr12:1195570-1195571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61161026	chr12:1195647-1195648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529179935	chr12:1195700-1195701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200835091	chr12:1195712-1195713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201798178	chr12:1195894-1195895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145008463	chr12:1196090-1196091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200124592	chr12:1196352-1196353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201272804	chr12:1196365-1196366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202162528	chr12:1196560-1196561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369404474	chr12:1196690-1196691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202094267	chr12:1196873-1196874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200508702	chr12:1196885-1196886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376515278	chr12:1196899-1196900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78860205	chr12:1196938-1196939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373982845	chr12:1196967-1196968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377023807	chr12:1197006-1197007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201086826	chr12:1197018-1197019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374414507	chr12:1197021-1197022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371306764	chr12:1197169-1197170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55982072	chr12:1197383-1197384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200379319	chr12:1197668-1197669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201426851	chr12:1198058-1198059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202136586	chr12:1198060-1198061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200140228	chr12:1198188-1198189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201294795	chr12:1198256-1198257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199632485	chr12:1198451-1198452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200496504	chr12:1198636-1198637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201579029	chr12:1198711-1198712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199522965	chr12:1198776-1198777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200546177	chr12:1198971-1198972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201511514	chr12:1199153-1199154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199799171	chr12:1199296-1199297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200731757	chr12:1199426-1199427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56011021	chr12:1199427-1199428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7303967	chr12:1199491-1199492	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201897411	chr12:1199621-1199622	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs367631985	chr12:1199686-1199687	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs370762191	chr12:1199739-1199740	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs557442095	chr12:1199804-1199805	Weak transcription	Chromatin interactive region	3 gene(s)	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:44 , 50 per page) page: 1

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	chr12:1179800-1195000	Weak transcription	Lung	lung
7	chr12:1180200-1199600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:1180200-1201800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:1183800-1232000	Weak transcription	Pancreas	Pancrea
10	chr12:1187400-1200400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:1187600-1201600	Weak transcription	Osteobl	bone
12	chr12:1187600-1212200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:1188000-1212400	Weak transcription	Esophagus	oesophagus
14	chr12:1191200-1209600	Weak transcription	HMEC	breast
15	chr12:1192000-1220800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:1192600-1205600	Weak transcription	Left Ventricle	heart
17	chr12:1192600-1238400	Weak transcription	Gastric	stomach
18	chr12:1192800-1280800	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:1193000-1224800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:1193200-1209400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:1193400-1203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:1193400-1213000	Weak transcription	Primary T cells from cord blood	blood
23	chr12:1197600-1203600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:1199800-1200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:1200200-1200400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:1200200-1200800	Enhancers	Ovary	ovary
27	chr12:1200400-1200800	Enhancers	Aorta	Aorta
28	chr12:1200400-1201000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:1200400-1201000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:1200400-1201000	Enhancers	Brain Anterior Caudate	brain
31	chr12:1200400-1201000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:1200400-1201000	Enhancers	Colon Smooth Muscle	Colon
33	chr12:1200400-1201200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:1200400-1201200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:1200400-1202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:1200600-1200800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:1200600-1200800	Enhancers	Fetal Lung	lung
38	chr12:1200600-1200800	Enhancers	Hela-S3	cervix
39	chr12:1200600-1201000	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:1200600-1201000	Enhancers	NHDF-Ad	bronchial
41	chr12:1200800-1201400	Weak transcription	Hela-S3	cervix
42	chr12:1200800-1205200	Weak transcription	Ovary	ovary
43	chr12:1200800-1212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:1200800-1238600	Weak transcription	Fetal Lung	lung

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