Variant report

Variant	esv3356823
Chromosome Location	chr12:11691685-11695883
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	BCL3	chr12:11693391-11694047	GM12878	blood:	n/a	n/a
2	BCL3	chr12:11693488-11693974	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:11693581-11693589	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:11691909-11692145	HepG2	liver:	n/a	chr12:11692005-11692016
5	CEBPB	chr12:11691999-11692030	K562	blood:	n/a	chr12:11692005-11692016
6	NFATC1	chr12:11693528-11694024	GM12878	blood:	n/a	n/a
7	NFATC1	chr12:11693559-11694064	GM12878	blood:	n/a	n/a
8	PBX3	chr12:11693615-11694095	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:11695290-11695379	Gliobla	brain:	n/a	n/a
10	POLR2A	chr12:11692030-11692117	ProgFib	skin:	n/a	n/a
11	POLR2A	chr12:11693704-11693741	Gliobla	brain:	n/a	n/a
12	POLR2A	chr12:11693328-11693528	K562	blood:	n/a	n/a
13	REST	chr12:11695549-11695827	PFSK-1	brain:	n/a	chr12:11695739-11695748
14	REST	chr12:11695527-11695913	H1-hESC	embryonic stem cell:	n/a	chr12:11695739-11695748
15	REST	chr12:11695615-11695787	GM12878	blood:	n/a	chr12:11695739-11695748
16	REST	chr12:11695633-11695789	K562	blood:	n/a	chr12:11695739-11695748
17	REST	chr12:11695516-11695874	Hela-S3	cervix:	n/a	chr12:11695739-11695748
18	REST	chr12:11695615-11695792	GM12878	blood:	n/a	chr12:11695739-11695748
19	REST	chr12:11695537-11695978	ECC-1	luminal epithelium:	n/a	chr12:11695739-11695748
20	REST	chr12:11695422-11696053	HL-60	blood:	n/a	chr12:11695739-11695748
21	REST	chr12:11695570-11695880	Hela-S3	cervix:	n/a	chr12:11695739-11695748
22	REST	chr12:11695574-11695773	SK-N-SH	brain:	n/a	chr12:11695739-11695748
23	REST	chr12:11695619-11695831	GM12878	blood:	n/a	chr12:11695739-11695748
24	REST	chr12:11695521-11695926	K562	blood:	n/a	chr12:11695739-11695748
25	REST	chr12:11695535-11695931	H1-hESC	embryonic stem cell:	n/a	chr12:11695739-11695748
26	REST	chr12:11695512-11695896	ECC-1	luminal epithelium:	n/a	chr12:11695739-11695748
27	REST	chr12:11695539-11695961	HL-60	blood:	n/a	chr12:11695739-11695748
28	REST	chr12:11695448-11695927	GM12878	blood:	n/a	chr12:11695739-11695748
29	REST	chr12:11695566-11695874	PFSK-1	brain:	n/a	chr12:11695739-11695748
30	RUNX3	chr12:11692039-11692418	GM12878	blood:	n/a	n/a
31	SIN3A	chr12:11695665-11695786	H1-hESC	embryonic stem cell:	n/a	n/a
32	STAT5A	chr12:11693521-11693996	GM12878	blood:	n/a	n/a
33	SUZ12	chr12:11693619-11693945	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF3	chr12:11693839-11693999	GM12878	blood:	n/a	n/a
35	ZNF263	chr12:11691219-11691933	HEK293-T-REx	kidney:	n/a	chr12:11691477-11691486 chr12:11691233-11691242
36	ZNF384	chr12:11695706-11695925	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11686911..11689463-chr12:11690530..11692218,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB2-1	chr12:11694329-11694460	ENSG00000256237

Variant related genes	Relation type
ENSG00000221128	TF binding region
RNU7-60P	TF binding region

Extended variants
information (count: 211 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371382037	chr12:11691687-11691688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530919098	chr12:11691691-11691692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1204423	chr12:11691709-11691710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116039147	chr12:11691809-11691810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528769840	chr12:11691860-11691861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149186374	chr12:11691872-11691873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571993909	chr12:11691897-11691898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10491978	chr12:11691904-11691905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4763253	chr12:11691937-11691938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113665150	chr12:11691952-11691953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572201045	chr12:11691967-11691968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191469694	chr12:11692000-11692001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76159973	chr12:11692007-11692008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4763702	chr12:11692051-11692052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74060990	chr12:11692064-11692065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369719687	chr12:11692109-11692110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182795062	chr12:11692158-11692159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532970539	chr12:11692173-11692174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143327534	chr12:11692188-11692189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577532111	chr12:11692235-11692236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544961409	chr12:11692236-11692237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187963107	chr12:11692287-11692288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373785937	chr12:11692310-11692311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575645301	chr12:11692316-11692317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543145164	chr12:11692319-11692320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367562036	chr12:11692357-11692358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577821195	chr12:11692363-11692364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151304731	chr12:11692384-11692385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528658286	chr12:11692391-11692392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192197317	chr12:11692393-11692394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565540074	chr12:11692401-11692402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532858174	chr12:11692406-11692407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184825234	chr12:11692429-11692430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571232025	chr12:11692431-11692432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112577047	chr12:11692470-11692471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569710550	chr12:11692498-11692499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs118039874	chr12:11692566-11692567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141655374	chr12:11692593-11692594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75918385	chr12:11692628-11692629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374518939	chr12:11692655-11692656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111411644	chr12:11692679-11692680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1962818	chr12:11692688-11692689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34862470	chr12:11692724-11692725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112457624	chr12:11692726-11692727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187683616	chr12:11692753-11692754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11054338	chr12:11692770-11692771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573709404	chr12:11692777-11692778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538591617	chr12:11692778-11692779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114492979	chr12:11692790-11692791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576990210	chr12:11692811-11692812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11685600-11693600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:11692400-11698200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:11692800-11698200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:11692800-11698400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:11693000-11694800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:11693000-11696200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:11693000-11698200	Enhancers	Primary T cells from cord blood	blood
8	chr12:11693200-11693600	Enhancers	Dnd41	blood
9	chr12:11693200-11693800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:11693200-11694600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:11693200-11694800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:11693200-11694800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:11693400-11694600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:11693400-11696800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:11693600-11693800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:11693600-11694000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr12:11693600-11694000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:11693600-11694000	Enhancers	Fetal Brain Male	brain
19	chr12:11693600-11694000	Enhancers	Lung	lung
20	chr12:11693600-11694000	Enhancers	Spleen	Spleen
21	chr12:11693600-11694000	Flanking Active TSS	Dnd41	blood
22	chr12:11693600-11694200	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:11693600-11694200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:11693600-11698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:11693800-11694000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:11693800-11694000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:11693800-11694000	Enhancers	Fetal Lung	lung
28	chr12:11693800-11694200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:11693800-11694400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:11693800-11694600	Enhancers	Fetal Thymus	thymus
31	chr12:11693800-11697200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:11693800-11698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:11694000-11694800	Enhancers	Dnd41	blood
34	chr12:11694000-11695800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:11694000-11695800	Weak transcription	Fetal Brain Male	brain
36	chr12:11694000-11696800	Weak transcription	Lung	lung
37	chr12:11694000-11698400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:11694000-11698400	Weak transcription	Fetal Lung	lung
39	chr12:11694000-11698400	Weak transcription	Spleen	Spleen
40	chr12:11694000-11698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:11694200-11696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:11694200-11696400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:11694200-11696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:11694400-11697200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:11694600-11695600	Weak transcription	Fetal Thymus	thymus
46	chr12:11694600-11695800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:11694600-11696800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:11694800-11695800	Weak transcription	Dnd41	blood
49	chr12:11694800-11696200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:11694800-11696400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links