Variant report

Variant	esv3500130
Chromosome Location	chr12:10593685-10598583
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	CTCF	chr12:10597587-10597650	Fibrobl	skin:	n/a	n/a
2	CTCF	chr12:10593932-10594014	A549	lung:	n/a	n/a
3	JUN	chr12:10595770-10595941	HepG2	liver:	n/a	chr12:10595807-10595820
4	MAZ	chr12:10598064-10598099	HepG2	liver:	n/a	n/a
5	MYC	chr12:10593893-10593974	MCF-7	breast:	n/a	n/a
6	MYC	chr12:10593991-10593998	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:10593846-10593878	Gliobla	brain:	n/a	n/a
8	POLR2A	chr12:10593855-10594023	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:10596359-10596502	ProgFib	skin:	n/a	n/a
10	POLR2A	chr12:10593859-10593988	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:10595448-10595462	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:10597610-10597807	A549	lung:	n/a	n/a
13	POLR2A	chr12:10593795-10594084	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-6	chr12:10597246-10597382	l_610_chr12:10597245-10602083_whiteBloodCell

Variant related genes	Relation type
KLRC2	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs528007417	chr12:10593693-10593694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187906841	chr12:10593755-10593756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143045934	chr12:10593761-10593762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370890643	chr12:10593762-10593763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530816490	chr12:10593784-10593785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10743891	chr12:10593809-10593810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs71300168	chr12:10593830-10593831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35649801	chr12:10593836-10593837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113866914	chr12:10593839-10593840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552663070	chr12:10593877-10593878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145747638	chr12:10593915-10593916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113426982	chr12:10593926-10593927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71221743	chr12:10593930-10593931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193019743	chr12:10593944-10593945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183733565	chr12:10593961-10593962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570139825	chr12:10593991-10593992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10743893	chr12:10593996-10593997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs567422941	chr12:10594003-10594004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373726792	chr12:10594016-10594017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61917686	chr12:10594030-10594031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544112110	chr12:10594031-10594032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73258254	chr12:10594045-10594046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188259663	chr12:10594052-10594053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546208927	chr12:10594053-10594054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554361748	chr12:10594100-10594101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11053800	chr12:10594111-10594112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2460741	chr12:10594124-10594125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374728483	chr12:10594138-10594139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533815025	chr12:10594169-10594170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114761537	chr12:10594208-10594209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530588338	chr12:10594209-10594210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550858342	chr12:10594215-10594216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193063009	chr12:10594238-10594239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371560539	chr12:10594267-10594268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546187064	chr12:10594311-10594312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554070113	chr12:10594331-10594332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576754847	chr12:10594335-10594336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566259922	chr12:10594341-10594342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184107578	chr12:10594347-10594348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188500161	chr12:10594436-10594437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568661456	chr12:10594458-10594459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537207184	chr12:10594470-10594471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557676583	chr12:10594488-10594489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577607395	chr12:10594541-10594542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545830983	chr12:10594548-10594549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191456407	chr12:10594567-10594568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555937393	chr12:10594583-10594584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61917687	chr12:10594594-10594595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542328661	chr12:10594621-10594622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561991585	chr12:10594633-10594634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10589400-10593800	Weak transcription	Hela-S3	cervix
2	chr12:10591600-10597600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10593800-10594000	Enhancers	Hela-S3	cervix
4	chr12:10597600-10598000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:10598000-10600800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links