Variant report

Variant	esv32742
Chromosome Location	chr12:1134352-1135588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1135451-1135510	MCF-7	breast:	n/a	n/a
2	SETDB1	chr12:1135517-1135842	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1058398..1059945-chr12:1134448..1137215,2	MCF-7	breast:

Variant related genes	Relation type
ERC1	TF binding region
ENSG00000002016	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573019831	chr12:1134467-1134468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561002644	chr12:1134472-1134473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115101825	chr12:1134474-1134475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371416474	chr12:1134507-1134508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142307940	chr12:1134509-1134510	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528134398	chr12:1134548-1134549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575281993	chr12:1134551-1134552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146197854	chr12:1134610-1134611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539838090	chr12:1134618-1134619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17755802	chr12:1134641-1134642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535261412	chr12:1134653-1134654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546749551	chr12:1134700-1134701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561591991	chr12:1134765-1134766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73033112	chr12:1134828-1134829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141339982	chr12:1134853-1134854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532688555	chr12:1134878-1134879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556949996	chr12:1134927-1134928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114184388	chr12:1134935-1134936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150339968	chr12:1134955-1134956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79265177	chr12:1134957-1134958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373063738	chr12:1134960-1134961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564979724	chr12:1134963-1134964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575827641	chr12:1134986-1134987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536805258	chr12:1135023-1135024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573219123	chr12:1135025-1135026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540432734	chr12:1135054-1135055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12424343	chr12:1135081-1135082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561839299	chr12:1135103-1135104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186712966	chr12:1135145-1135146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138004541	chr12:1135161-1135162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191225260	chr12:1135162-1135163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555253462	chr12:1135182-1135183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551079815	chr12:1135188-1135189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184801896	chr12:1135201-1135202	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527337302	chr12:1135209-1135210	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546810928	chr12:1135253-1135254	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11834726	chr12:1135285-1135286	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535636209	chr12:1135323-1135324	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551282470	chr12:1135342-1135343	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114628630	chr12:1135346-1135347	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539832999	chr12:1135393-1135394	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73606388	chr12:1135442-1135443	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559282712	chr12:1135458-1135459	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566979009	chr12:1135492-1135493	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77094036	chr12:1135494-1135495	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143041175	chr12:1135545-1135546	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573911114	chr12:1135573-1135574	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1101200-1137000	Weak transcription	Lung	lung
2	chr12:1101600-1136800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:1101600-1136800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:1101600-1137000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:1102000-1137000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:1102000-1137200	Weak transcription	Fetal Lung	lung
7	chr12:1102200-1135200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:1102600-1136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:1102600-1137000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:1107600-1136600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:1113200-1136600	Weak transcription	Fetal Intestine Large	intestine
12	chr12:1113200-1137200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:1113400-1137000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:1113400-1137000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:1113400-1157000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:1115800-1137000	Weak transcription	Esophagus	oesophagus
17	chr12:1116400-1137000	Weak transcription	Ovary	ovary
18	chr12:1120400-1137000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:1122000-1136600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:1123000-1137000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:1123000-1143800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:1123200-1136800	Weak transcription	HepG2	liver
23	chr12:1123200-1137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:1123200-1137000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:1123200-1137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:1123200-1137000	Weak transcription	NHLF	lung
27	chr12:1123400-1137000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:1123400-1137000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:1123400-1137000	Weak transcription	HMEC	breast
30	chr12:1123600-1136600	Weak transcription	Left Ventricle	heart
31	chr12:1123600-1137000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:1123600-1137000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:1123600-1137000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:1123800-1137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:1123800-1137000	Weak transcription	Hela-S3	cervix
36	chr12:1123800-1138600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:1124000-1137000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:1125200-1141600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:1125600-1136600	Weak transcription	Osteobl	bone
40	chr12:1125800-1136800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr12:1125800-1137000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:1126200-1137000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:1127000-1137000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:1127400-1143800	Weak transcription	Brain Germinal Matrix	brain
45	chr12:1128000-1137000	Weak transcription	Dnd41	blood
46	chr12:1128200-1143400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:1128400-1137000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:1128400-1137000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:1128600-1136600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:1128600-1136800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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