Variant report

Variant	esv3397788
Chromosome Location	chr12:42636734-42665519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:42659414-42659592	HepG2	liver:	n/a	chr12:42659479-42659490
2	CEBPB	chr12:42649194-42650041	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:42659379-42659634	IMR90	lung:	n/a	chr12:42659479-42659490
4	CEBPB	chr12:42659373-42659586	K562	blood:	n/a	chr12:42659479-42659490
5	CEBPB	chr12:42654972-42655194	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:42665060-42665163	HepG2	liver:	n/a	chr12:42665124-42665135
7	CTCF	chr12:42649080-42649230	A549	lung:	n/a	n/a
8	CTCF	chr12:42649199-42649296	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:42649120-42649270	HVMF	connective:	n/a	n/a
10	CTCF	chr12:42649168-42649260	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr12:42649080-42649230	HL-60	blood:	n/a	n/a
12	CTCF	chr12:42649160-42649310	Caco-2	colon:	n/a	n/a
13	CTCF	chr12:42649160-42649310	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr12:42649140-42649290	BE2_C	brain:	n/a	n/a
15	CTCF	chr12:42649180-42649330	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr12:42649100-42649250	HepG2	liver:	n/a	n/a
17	CTCF	chr12:42649160-42649310	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr12:42649140-42649290	GM12873	blood:	n/a	n/a
19	CTCF	chr12:42649180-42649330	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr12:42649120-42649270	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr12:42649160-42649310	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr12:42649120-42649270	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr12:42649060-42649210	HMF	breast:	n/a	n/a
24	CTCF	chr12:42649100-42649250	AG04449	skin:	n/a	n/a
25	CTCF	chr12:42640113-42640210	K562	blood:	n/a	n/a
26	CTCF	chr12:42649178-42649282	A549	lung:	n/a	n/a
27	CTCF	chr12:42649260-42649410	HCFaa	heart:	n/a	n/a
28	CTCF	chr12:42665227-42665359	GM19238	blood:	n/a	n/a
29	CTCF	chr12:42649140-42649290	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:42649220-42649370	K562	blood:	n/a	n/a
31	CTCF	chr12:42649140-42649290	A549	lung:	n/a	n/a
32	CTCF	chr12:42649160-42649310	BE2_C	brain:	n/a	n/a
33	CTCF	chr12:42649020-42649404	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:42649224-42649270	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:42649193-42649289	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:42649160-42649310	HRE	kidney:	n/a	n/a
37	CTCF	chr12:42649120-42649410	RPTEC	kidney:	n/a	n/a
38	CTCF	chr12:42649156-42649295	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr12:42649164-42649166	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:42649138-42649307	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:42649140-42649290	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr12:42649100-42649250	GM12873	blood:	n/a	n/a
43	CTCF	chr12:42649100-42649390	GM12868	blood:	n/a	n/a
44	CTCF	chr12:42649180-42649330	HMEC	breast:	n/a	n/a
45	CTCF	chr12:42649220-42649370	GM06990	blood:	n/a	n/a
46	CTCF	chr12:42649120-42649270	HEK293	kidney:	n/a	n/a
47	CTCF	chr12:42649120-42649410	SAEC	small airway:	n/a	n/a
48	CTCF	chr12:42649120-42649270	HepG2	liver:	n/a	n/a
49	CTCF	chr12:42649140-42649290	GM12869	blood:	n/a	n/a
50	CTCF	chr12:42649131-42649320	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42633699..42635354-chr12:42650492..42652110,2	K562	blood:
2	chr12:42652103..42654567-chr12:42656993..42659814,2	MCF-7	breast:
3	chr12:42630899..42632760-chr12:42639742..42641533,2	K562	blood:
4	chr12:42536520..42538445-chr12:42636169..42638853,2	MCF-7	breast:
5	chr12:42630764..42634412-chr12:42661858..42664112,3	K562	blood:
6	chr12:42630657..42633429-chr12:42647467..42649412,2	MCF-7	breast:
7	chr12:42631147..42633630-chr12:42655201..42657259,2	K562	blood:
8	chr12:42652103..42654567-chr12:42656993..42659814,2	MCF-7	breast:
9	chr12:42656814..42658836-chr12:42692497..42694182,2	K562	blood:
10	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
11	chr12:42631376..42634368-chr12:42640313..42643094,3	MCF-7	breast:
12	chr12:42631690..42633240-chr12:42634536..42637417,2	MCF-7	breast:

No data

Variant related genes	Relation type
YAF2	TF binding region
ENSG00000015153	chromatin interactions
ENSG00000134283	chromatin interactions

Extended variants
information (count: 891 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558635097	chr12:42636738-42636739	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs571882811	chr12:42636751-42636752	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs539095632	chr12:42636761-42636762	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114345634	chr12:42636762-42636763	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544221333	chr12:42636790-42636791	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12322392	chr12:42636812-42636813	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs60903833	chr12:42636820-42636821	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557319338	chr12:42636871-42636872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372925261	chr12:42636881-42636882	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561235357	chr12:42636893-42636894	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201175711	chr12:42636964-42636965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370862983	chr12:42637010-42637011	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540379861	chr12:42637017-42637018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs117416786	chr12:42637042-42637043	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12322511	chr12:42637048-42637049	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550633559	chr12:42637069-42637070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568787674	chr12:42637085-42637086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7315968	chr12:42637086-42637087	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs548641272	chr12:42637103-42637104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117016662	chr12:42637138-42637139	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116230696	chr12:42637236-42637237	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552325122	chr12:42637289-42637290	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555251034	chr12:42637374-42637375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186485851	chr12:42637401-42637402	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537989626	chr12:42637468-42637469	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370365736	chr12:42637500-42637501	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370116701	chr12:42637510-42637511	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187067924	chr12:42637527-42637528	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79349614	chr12:42637567-42637568	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535835747	chr12:42637599-42637600	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572476669	chr12:42637610-42637611	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554903803	chr12:42637663-42637664	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139829668	chr12:42637719-42637720	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13377867	chr12:42637729-42637730	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546436511	chr12:42637746-42637747	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143258648	chr12:42637759-42637760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565107451	chr12:42637761-42637762	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577097969	chr12:42637777-42637778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146227386	chr12:42637827-42637828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs562600846	chr12:42637835-42637836	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529660726	chr12:42637837-42637838	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548127764	chr12:42637838-42637839	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35888618	chr12:42637901-42637902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531085232	chr12:42637910-42637911	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs398019268	chr12:42637913-42637914	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs55770259	chr12:42637914-42637915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
47	rs56249104	chr12:42637926-42637927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527950756	chr12:42637965-42637966	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs552429517	chr12:42637986-42637987	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201709797	chr12:42637999-42638000	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42640800-42641200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:42648800-42650200	Enhancers	Hela-S3	cervix
3	chr12:42649200-42650000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:42649600-42650000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:42650200-42655600	Weak transcription	Hela-S3	cervix
6	chr12:42654200-42660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:42654400-42654600	Enhancers	Fetal Muscle Leg	muscle
8	chr12:42655600-42656000	Enhancers	Hela-S3	cervix
9	chr12:42659600-42667800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:42660000-42662000	Enhancers	Placenta	Placenta
11	chr12:42660400-42661000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:42660600-42660800	Bivalent Enhancer	HepG2	liver
13	chr12:42660600-42661800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:42660600-42662000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:42660600-42662000	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:42660600-42662000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:42661000-42662000	Enhancers	Fetal Muscle Leg	muscle
18	chr12:42661600-42661800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:42661600-42662000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:42661600-42662000	Bivalent/Poised TSS	HepG2	liver
21	chr12:42662000-42667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:42664000-42665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:42664200-42665200	Enhancers	HUVEC	blood vessel
24	chr12:42664200-42665400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:42664400-42664600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:42664400-42664800	Enhancers	Hela-S3	cervix
27	chr12:42664400-42666000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:42664600-42665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:42664600-42665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:42664600-42665000	Enhancers	Adipose Nuclei	Adipose
31	chr12:42664600-42665000	Enhancers	Fetal Intestine Large	intestine
32	chr12:42664600-42665000	Enhancers	Fetal Intestine Small	intestine
33	chr12:42664600-42665600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:42664600-42665800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:42664600-42666000	Enhancers	Liver	Liver
36	chr12:42664600-42666000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:42664800-42665000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:42664800-42665000	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr12:42664800-42665000	Enhancers	Spleen	Spleen
40	chr12:42665000-42665200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links