Variant report

Variant	esv3450451
Chromosome Location	chr12:1159891-1162289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1097753..1102516-chr12:1157967..1161373,5	MCF-7	breast:
2	chr12:1161679..1164344-chr12:1168247..1169852,2	MCF-7	breast:
3	chr12:1152891..1155598-chr12:1157921..1160119,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD52-1	chr12:1162266-1162823	predAs_chen_BG198287_1

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

Extended variants
information (count: 104 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554889512	chr12:1159925-1159926	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs573014168	chr12:1159934-1159935	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs71449121	chr12:1159954-1159955	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs71454817	chr12:1159956-1159957	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531532720	chr12:1159957-1159958	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs28613628	chr12:1159981-1159982	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571266579	chr12:1160024-1160025	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538245411	chr12:1160039-1160040	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367687173	chr12:1160086-1160087	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565591772	chr12:1160095-1160096	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs534415862	chr12:1160096-1160097	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs556030865	chr12:1160110-1160111	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs574264121	chr12:1160119-1160120	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538585992	chr12:1160120-1160121	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7956944	chr12:1160156-1160157	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577978476	chr12:1160159-1160160	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547044306	chr12:1160169-1160170	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547878069	chr12:1160184-1160185	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs74679533	chr12:1160228-1160229	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs16932151	chr12:1160245-1160246	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572417700	chr12:1160278-1160279	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs187811828	chr12:1160295-1160296	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs190823059	chr12:1160336-1160337	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs11061619	chr12:1160349-1160350	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs549703937	chr12:1160356-1160357	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs539269621	chr12:1160360-1160361	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs74411311	chr12:1160377-1160378	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532136315	chr12:1160383-1160384	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs112045595	chr12:1160405-1160406	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563448669	chr12:1160427-1160428	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs60451009	chr12:1160507-1160508	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565654617	chr12:1160548-1160549	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs16932152	chr12:1160553-1160554	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73033133	chr12:1160566-1160567	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567900364	chr12:1160568-1160569	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs371340702	chr12:1160584-1160585	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs58052327	chr12:1160589-1160590	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs12423543	chr12:1160615-1160616	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs369274407	chr12:1160632-1160633	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs12422349	chr12:1160636-1160637	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs142603229	chr12:1160667-1160668	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs115502606	chr12:1160672-1160673	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs61918706	chr12:1160692-1160693	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs201300882	chr12:1160696-1160697	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs35353366	chr12:1160720-1160721	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs553909310	chr12:1160732-1160733	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs144032339	chr12:1160791-1160792	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs7305368	chr12:1160793-1160794	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs554631877	chr12:1160796-1160797	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188503579	chr12:1160832-1160833	Enhancers Weak transcription Strong transcription Flanking Active TSS	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1128800-1162600	Weak transcription	Fetal Heart	heart
2	chr12:1137600-1162200	Weak transcription	Spleen	Spleen
3	chr12:1137600-1164400	Weak transcription	Gastric	stomach
4	chr12:1137600-1172200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:1137800-1162800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:1137800-1167400	Weak transcription	Lung	lung
7	chr12:1137800-1172200	Weak transcription	Aorta	Aorta
8	chr12:1138000-1166600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:1138000-1172200	Weak transcription	Placenta	Placenta
10	chr12:1138200-1164200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:1138400-1163000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:1138600-1160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:1138600-1167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:1138800-1163000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:1139800-1160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:1139800-1169400	Weak transcription	Fetal Thymus	thymus
17	chr12:1140000-1162400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:1140200-1167400	Weak transcription	Primary B cells from cord blood	blood
19	chr12:1144600-1162200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:1144800-1163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:1149400-1166400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:1151400-1168000	Weak transcription	Fetal Stomach	stomach
23	chr12:1153400-1200400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:1154200-1162400	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:1154400-1167600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:1154600-1163800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:1154800-1163600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:1156400-1162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:1156800-1164000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:1157000-1161200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:1157400-1162400	Weak transcription	Stomach Mucosa	stomach
32	chr12:1157400-1162800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:1157600-1160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:1157600-1162400	Weak transcription	Fetal Brain Male	brain
35	chr12:1157600-1162400	Weak transcription	Ovary	ovary
36	chr12:1157600-1162600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:1157600-1162600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:1157600-1162800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:1157600-1163600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:1157600-1165600	Weak transcription	Right Atrium	heart
41	chr12:1157600-1171600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:1157600-1171800	Weak transcription	Thymus	Thymus
43	chr12:1157600-1171800	Weak transcription	Osteobl	bone
44	chr12:1157600-1172000	Weak transcription	Left Ventricle	heart
45	chr12:1157600-1172000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:1157600-1172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:1157800-1160000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:1157800-1160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:1157800-1161600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:1157800-1162400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links