Variant report

Variant	esv3479541
Chromosome Location	chr12:1197116-1201264
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
ENSG00000002016	chromatin interactions
ENSG00000250132	chromatin interactions
ENSG00000082805	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371306764	chr12:1197169-1197170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55982072	chr12:1197383-1197384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200379319	chr12:1197668-1197669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201426851	chr12:1198058-1198059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202136586	chr12:1198060-1198061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200140228	chr12:1198188-1198189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201294795	chr12:1198256-1198257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199632485	chr12:1198451-1198452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200496504	chr12:1198636-1198637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201579029	chr12:1198711-1198712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199522965	chr12:1198776-1198777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200546177	chr12:1198971-1198972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201511514	chr12:1199153-1199154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199799171	chr12:1199296-1199297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200731757	chr12:1199426-1199427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56011021	chr12:1199427-1199428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7303967	chr12:1199491-1199492	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201897411	chr12:1199621-1199622	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367631985	chr12:1199686-1199687	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370762191	chr12:1199739-1199740	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs557442095	chr12:1199804-1199805	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28591150	chr12:1199813-1199814	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs111311791	chr12:1199816-1199817	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs575504674	chr12:1199852-1199853	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs199974995	chr12:1199868-1199869	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7307457	chr12:1199869-1199870	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs28429381	chr12:1199881-1199882	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs190894545	chr12:1199884-1199885	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs183518448	chr12:1199922-1199923	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7135939	chr12:1199923-1199924	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs7307482	chr12:1199934-1199935	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201282530	chr12:1199946-1199947	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs71055127	chr12:1199978-1199979	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs372845329	chr12:1199998-1199999	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371974890	chr12:1199999-1200000	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201886757	chr12:1200010-1200011	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs61919991	chr12:1200011-1200012	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7136067	chr12:1200014-1200015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs7136073	chr12:1200032-1200033	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs28420095	chr12:1200035-1200036	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs61919992	chr12:1200038-1200039	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs375241604	chr12:1200041-1200042	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs376007661	chr12:1200057-1200058	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs149497215	chr12:1200062-1200063	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
45	rs188479283	chr12:1200065-1200066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs192749375	chr12:1200068-1200069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377322007	chr12:1200078-1200079	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs149070879	chr12:1200079-1200080	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200097163	chr12:1200100-1200101	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553939350	chr12:1200105-1200106	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:48 , 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	chr12:1174200-1201600	Weak transcription	A549	lung
4	chr12:1175200-1211600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:1180200-1199600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:1180200-1201800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:1183800-1232000	Weak transcription	Pancreas	Pancrea
8	chr12:1187400-1200400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:1187600-1201600	Weak transcription	Osteobl	bone
10	chr12:1187600-1212200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:1188000-1212400	Weak transcription	Esophagus	oesophagus
12	chr12:1191200-1209600	Weak transcription	HMEC	breast
13	chr12:1192000-1220800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:1192600-1205600	Weak transcription	Left Ventricle	heart
15	chr12:1192600-1238400	Weak transcription	Gastric	stomach
16	chr12:1192800-1280800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:1193000-1224800	Weak transcription	Adipose Nuclei	Adipose
18	chr12:1193200-1209400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:1193400-1203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:1193400-1213000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:1197600-1203600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:1199800-1200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:1200200-1200400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:1200200-1200800	Enhancers	Ovary	ovary
25	chr12:1200400-1200800	Enhancers	Aorta	Aorta
26	chr12:1200400-1201000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:1200400-1201000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:1200400-1201000	Enhancers	Brain Anterior Caudate	brain
29	chr12:1200400-1201000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:1200400-1201000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:1200400-1201200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:1200400-1201200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:1200400-1202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:1200600-1200800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1200600-1200800	Enhancers	Fetal Lung	lung
36	chr12:1200600-1200800	Enhancers	Hela-S3	cervix
37	chr12:1200600-1201000	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:1200600-1201000	Enhancers	NHDF-Ad	bronchial
39	chr12:1200800-1201400	Weak transcription	Hela-S3	cervix
40	chr12:1200800-1205200	Weak transcription	Ovary	ovary
41	chr12:1200800-1212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:1200800-1238600	Weak transcription	Fetal Lung	lung
43	chr12:1201000-1202000	Weak transcription	Brain Anterior Caudate	brain
44	chr12:1201000-1207600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:1201000-1214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:1201000-1220400	Weak transcription	NHDF-Ad	bronchial
47	chr12:1201000-1241000	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:1201200-1201400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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