Variant report

Variant	esv10767
Chromosome Location	chr12:26111540-26112100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr12:26111238-26112215	K562	blood:	n/a	n/a
2	CEBPB	chr12:26111941-26112234	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:26111890-26112243	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:26111833-26112347	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr12:26112044-26112231	K562	blood:	n/a	n/a
6	CEBPB	chr12:26111874-26112285	IMR90	lung:	n/a	n/a
7	CEBPB	chr12:26111976-26112392	A549	lung:	n/a	n/a
8	CEBPB	chr12:26111941-26112282	A549	lung:	n/a	n/a
9	CEBPB	chr12:26111886-26112248	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:26111962-26112210	MCF-7	breast:	n/a	n/a
11	CEBPB	chr12:26110907-26113412	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr12:26111935-26112156	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:26111997-26112283	A549	lung:	n/a	n/a
14	CEBPB	chr12:26112002-26112163	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPD	chr12:26111949-26112217	HepG2	liver:	n/a	n/a
16	CHD1	chr12:26111776-26111841	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251
18	CHD2	chr12:26110923-26111653	H1-hESC	embryonic stem cell:	n/a	chr12:26111241-26111251
19	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
20	CHD2	chr12:26111193-26111675	HepG2	liver:	n/a	chr12:26111241-26111251
21	CHD2	chr12:26111356-26111688	K562	blood:	n/a	n/a
22	CREB1	chr12:26111109-26112471	A549	lung:	n/a	n/a
23	CREB1	chr12:26111027-26111852	HepG2	liver:	n/a	n/a
24	CTBP2	chr12:26111692-26112349	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:26111400-26111550	GM12866	blood:	n/a	n/a
26	CTCF	chr12:26111700-26111850	GM12866	blood:	n/a	n/a
27	CTCF	chr12:26111391-26111596	Fibrobl	skin:	n/a	n/a
28	CTCF	chr12:26111418-26111579	GM12891	blood:	n/a	n/a
29	CTCF	chr12:26111440-26111590	GM12869	blood:	n/a	n/a
30	CTCF	chr12:26111399-26111562	GM19238	blood:	n/a	n/a
31	CTCF	chr12:26111400-26111550	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr12:26111391-26111546	LNCaP	prostate:	n/a	n/a
33	CTCF	chr12:26111373-26111558	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr12:26111358-26111545	GM12878	blood:	n/a	n/a
35	CTCF	chr12:26111405-26111559	GM12892	blood:	n/a	n/a
36	CTCF	chr12:26111400-26111550	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr12:26111404-26111541	ProgFib	skin:	n/a	n/a
38	CTCF	chr12:26111460-26111610	Caco-2	colon:	n/a	n/a
39	CTCF	chr12:26111400-26111550	HEK293	kidney:	n/a	n/a
40	CTCF	chr12:26111387-26111589	GM19240	blood:	n/a	n/a
41	CTCF	chr12:26111408-26111578	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:26111420-26111570	GM12871	blood:	n/a	n/a
43	CTCF	chr12:26111263-26111560	K562	blood:	n/a	n/a
44	CTCF	chr12:26111388-26111566	HepG2	liver:	n/a	n/a
45	CTCF	chr12:26111415-26111564	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:26112100-26112250	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:26111400-26111550	GM12864	blood:	n/a	n/a
48	CTCF	chr12:26111357-26111559	A549	lung:	n/a	n/a
49	CTCF	chr12:26111420-26111570	GM12867	blood:	n/a	n/a
50	CTCF	chr12:26111398-26111569	NHEK	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26112065-26112115	HepG2	liver:	n/a
2	chr12:26112065-26112115	HRCEpiC	kidney:	n/a
3	chr12:26112065-26112115	SKMC	muscle:	n/a
4	chr12:26111821-26111871	GM19239	blood:	n/a
5	chr12:26112065-26112115	Caco-2	colon:	n/a
6	chr12:26111697-26111747	ProgFib	skin:	n/a
7	chr12:26112065-26112115	BJ	skin:	n/a
8	chr12:26111697-26111747	NB4	blood:	n/a
9	chr12:26111697-26111747	GM12891	blood:	n/a
10	chr12:26111821-26111871	GM12891	blood:	n/a
11	chr12:26112065-26112115	HAEpiC	amniotic membrane:	n/a
12	chr12:26111821-26111871	HNPCEpiC	eye:	n/a
13	chr12:26111821-26111871	GM12878	blood:	n/a
14	chr12:26111697-26111747	AoSMC	blood vessel:	n/a
15	chr12:26111821-26111871	BE2_C	brain:	n/a
16	chr12:26112065-26112115	AG04449	skin:	fetal
17	chr12:26111821-26111871	U87	brain:	n/a
18	chr12:26111697-26111747	PFSK-1	brain:	n/a
19	chr12:26111821-26111871	HEK293	kidney:	embryo
20	chr12:26111821-26111871	Caco-2	colon:	n/a
21	chr12:26111821-26111871	MCF10A-Er-Src	breast:	n/a
22	chr12:26112065-26112115	PANC-1	pancreas:	n/a
23	chr12:26112065-26112115	SAEC	small airway:	n/a
24	chr12:26111697-26111747	GM12878	blood:	n/a
25	chr12:26112065-26112115	NH-A	brain:	n/a
26	chr12:26111697-26111747	HRPEpiC	eye:	n/a
27	chr12:26112065-26112115	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:26111697-26111747	Jurkat	blood:	n/a
29	chr12:26111697-26111747	Hepatocyte	liver:	n/a
30	chr12:26111697-26111747	HNPCEpiC	eye:	n/a
31	chr12:26111821-26111871	HAEpiC	amniotic membrane:	n/a
32	chr12:26111821-26111871	PANC-1	pancreas:	n/a
33	chr12:26112065-26112115	GM12891	blood:	n/a
34	chr12:26111821-26111871	NB4	blood:	n/a
35	chr12:26111821-26111871	HMEC	breast:	n/a
36	chr12:26112065-26112115	K562	blood:	n/a
37	chr12:26111697-26111747	GM19239	blood:	n/a
38	chr12:26111697-26111747	SK-N-MC	brain:	n/a
39	chr12:26111697-26111747	SAEC	small airway:	n/a
40	chr12:26112065-26112115	A549	lung:	n/a
41	chr12:26111821-26111871	HIPEpiC	eye:	n/a
42	chr12:26111821-26111871	HRPEpiC	eye:	n/a
43	chr12:26111821-26111871	H1-hESC	embryonic stem cell:	embryo
44	chr12:26111821-26111871	BJ	skin:	n/a
45	chr12:26112065-26112115	MCF-7	breast:	n/a
46	chr12:26111697-26111747	ovcar-3	ovarian:	n/a
47	chr12:26111697-26111747	HCF	heart:	n/a
48	chr12:26111821-26111871	AG04449	skin:	fetal
49	chr12:26111821-26111871	ProgFib	skin:	n/a
50	chr12:26111697-26111747	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:
2	chr12:26110998..26111780-chr19:1251515..1252465,2	Hela-S3	cervix:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSPN-6	chr12:26112054-26112081	NONHSAT027388
2	lnc-SSPN-6	chr12:26111991-26112081	NONHSAT027385
3	lnc-BHLHE41-2	chr12:26111865-26111998	ENSG00000246695
4	lnc-BHLHE41-2	chr12:26111865-26111998	ENSG00000246695
5	lnc-BHLHE41-2	chr12:26111865-26111975	ENSG00000246695
6	lnc-SSPN-6	chr12:26112054-26112081	NONHSAT027387

No data

Variant related genes	Relation type
RASSF8-AS1	TF binding region
RASSF8	TF binding region
RASSF8-AS1	CpG island
RASSF8	CpG island
ENSG00000167470	chromatin interactions
ENSG00000256440	chromatin interactions
RPH3AL	miRNA target sites
TMEM41A	miRNA target sites

Extended variants
information (count: 14 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533183570	chr12:26111567-26111568	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs555340450	chr12:26111571-26111572	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs706519	chr12:26111576-26111577	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539739864	chr12:26111648-26111649	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs113005451	chr12:26111693-26111694	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558370652	chr12:26111695-26111696	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs143079346	chr12:26111740-26111741	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs706520	chr12:26111780-26111781	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs552669575	chr12:26111905-26111906	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs3741544	chr12:26111923-26111924	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs558048169	chr12:26111941-26111942	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs556640699	chr12:26111963-26111964	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs575544437	chr12:26112062-26112063	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs117899401	chr12:26112098-26112099	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
10	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26110600-26112200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:26110600-26112400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:26110600-26112600	Active TSS	Fetal Brain Female	brain
16	chr12:26110600-26112800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:26110600-26112800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:26110600-26112800	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:26110600-26112800	Active TSS	Fetal Intestine Small	intestine
20	chr12:26110600-26112800	Active TSS	Fetal Stomach	stomach
21	chr12:26110600-26112800	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:26110600-26112800	Active TSS	HSMMtube	muscle
23	chr12:26110600-26112800	Active TSS	NH-A	brain
24	chr12:26110600-26113000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:26110600-26113000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:26110600-26113000	Active TSS	Brain Substantia Nigra	brain
27	chr12:26110600-26113200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:26110600-26113200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:26110600-26113200	Active TSS	Fetal Lung	lung
30	chr12:26110600-26113200	Active TSS	Left Ventricle	heart
31	chr12:26110600-26113200	Active TSS	HSMM	muscle
32	chr12:26110600-26113400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:26110600-26113400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:26110600-26113400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:26110600-26113400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:26110600-26113400	Active TSS	Aorta	Aorta
37	chr12:26110600-26113400	Active TSS	Brain Angular Gyrus	brain
38	chr12:26110600-26113600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:26110600-26113600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:26110600-26113600	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:26110600-26113600	Active TSS	NHDF-Ad	bronchial
42	chr12:26110600-26113800	Active TSS	Right Ventricle	heart
43	chr12:26110600-26114000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:26110600-26114000	Active TSS	Right Atrium	heart
45	chr12:26110800-26112000	Active TSS	Colonic Mucosa	Colon
46	chr12:26110800-26112000	Bivalent/Poised TSS	Thymus	Thymus
47	chr12:26110800-26112200	Active TSS	Primary T cells from cord blood	blood
48	chr12:26110800-26112200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:26110800-26112200	Active TSS	Brain Germinal Matrix	brain
50	chr12:26110800-26112200	Active TSS	Small Intestine	intestine

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