Variant report

Variant	esv1796932
Chromosome Location	chr12:11547524-11575384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:245)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:11569521-11569734	K562	blood:	n/a	n/a
2	CEBPB	chr12:11550359-11550619	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:11550382-11550647	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr12:11548407-11548506	Lung_OC	lung:	n/a	n/a
5	CTCF	chr12:11557353-11557374	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr12:11569479-11569545	MCF-7	breast:	n/a	n/a
7	CTCF	chr12:11549867-11549930	GM13976	blood:	n/a	n/a
8	CTCF	chr12:11557375-11557427	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr12:11566785-11566861	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr12:11548021-11548061	LNCaP	prostate:	n/a	n/a
11	CTCF	chr12:11568873-11568951	LNCaP	prostate:	n/a	n/a
12	CTCF	chr12:11556054-11556104	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr12:11552280-11552316	GM13977	blood:	n/a	n/a
14	FOXA1	chr12:11569447-11569709	HepG2	liver:	n/a	n/a
15	FOXA2	chr12:11569357-11569726	A549	lung:	n/a	n/a
16	MAFF	chr12:11557107-11557392	HepG2	liver:	n/a	n/a
17	MAFF	chr12:11566143-11566371	HepG2	liver:	n/a	n/a
18	MAFF	chr12:11557198-11557306	K562	blood:	n/a	n/a
19	MAFK	chr12:11557085-11557418	HepG2	liver:	n/a	chr12:11557239-11557259
20	MAFK	chr12:11566196-11566453	IMR90	lung:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
21	MAFK	chr12:11564921-11565090	HepG2	liver:	n/a	n/a
22	MAFK	chr12:11566208-11566341	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
23	MAFK	chr12:11557108-11557399	HepG2	liver:	n/a	chr12:11557239-11557259
24	MAFK	chr12:11566124-11566425	HepG2	liver:	n/a	chr12:11566279-11566299 chr12:11566269-11566280
25	MYC	chr12:11569517-11569581	K562	blood:	n/a	n/a
26	NFYB	chr12:11564669-11565138	GM12878	blood:	n/a	n/a
27	NFYB	chr12:11564593-11565166	K562	blood:	n/a	n/a
28	POLR2A	chr12:11569454-11569657	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:11561676-11561762	K562	blood:	n/a	n/a
30	SP1	chr12:11564703-11565083	GM12878	blood:	n/a	n/a
31	SPI1	chr12:11550341-11550670	HL-60	blood:	n/a	chr12:11550526-11550535
32	STAT3	chr12:11554261-11554450	MCF10A-Er-Src	breast:	n/a	chr12:11554322-11554330
33	STAT3	chr12:11566012-11566097	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF7L2	chr12:11565728-11565985	HepG2	liver:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11548019-11548069	GM12892	blood:	n/a
2	chr12:11548019-11548069	GM12892	blood:	n/a
3	chr12:11549555-11549605	Jurkat	blood:	n/a
4	chr12:11548867-11548917	PFSK-1	brain:	n/a
5	chr12:11548867-11548917	K562	blood:	n/a
6	chr12:11548019-11548069	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:11548867-11548917	SKMC	muscle:	n/a
8	chr12:11548867-11548917	ProgFib	skin:	n/a
9	chr12:11548867-11548917	RPTEC	kidney:	n/a
10	chr12:11549555-11549605	PrEC	prostate:	n/a
11	chr12:11549555-11549605	GM06990	blood:	n/a
12	chr12:11548867-11548917	NB4	blood:	n/a
13	chr12:11548019-11548069	IMR90	lung:	fetal
14	chr12:11549555-11549605	A549	lung:	n/a
15	chr12:11549192-11549242	HEK293	kidney:	embryo
16	chr12:11549555-11549605	NHDF-neo	bronchial:	n/a
17	chr12:11548019-11548069	U87	brain:	n/a
18	chr12:11548019-11548069	SK-N-SH	brain:	n/a
19	chr12:11548867-11548917	Caco-2	colon:	n/a
20	chr12:11548867-11548917	HEK293	kidney:	embryo
21	chr12:11548867-11548917	PrEC	prostate:	n/a
22	chr12:11549555-11549605	Hepatocyte	liver:	n/a
23	chr12:11549192-11549242	IMR90	lung:	fetal
24	chr12:11549555-11549605	AG04449	skin:	fetal
25	chr12:11548019-11548069	HCF	heart:	n/a
26	chr12:11549192-11549242	LNCaP	prostate:	n/a
27	chr12:11549555-11549605	AG10803	skin:	n/a
28	chr12:11548867-11548917	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:11549555-11549605	H1-hESC	embryonic stem cell:	embryo
30	chr12:11548867-11548917	HCM	heart:	n/a
31	chr12:11549555-11549605	RPTEC	kidney:	n/a
32	chr12:11549555-11549605	AG09309	skin:	n/a
33	chr12:11549192-11549242	AG04450	lung:	fetal
34	chr12:11548867-11548917	A549	lung:	n/a
35	chr12:11548019-11548069	CMK	blood:	n/a
36	chr12:11548019-11548069	HL-60	blood:	n/a
37	chr12:11549555-11549605	SKMC	muscle:	n/a
38	chr12:11548867-11548917	AoSMC	blood vessel:	n/a
39	chr12:11548019-11548069	HIPEpiC	eye:	n/a
40	chr12:11548019-11548069	MCF10A-Er-Src	breast:	n/a
41	chr12:11548019-11548069	AG04450	lung:	fetal
42	chr12:11548867-11548917	GM12892	blood:	n/a
43	chr12:11549192-11549242	HRPEpiC	eye:	n/a
44	chr12:11549192-11549242	ECC-1	luminal epithelium:	n/a
45	chr12:11548867-11548917	GM19239	blood:	n/a
46	chr12:11549192-11549242	HNPCEpiC	eye:	n/a
47	chr12:11548019-11548069	BE2_C	brain:	n/a
48	chr12:11549192-11549242	ProgFib	skin:	n/a
49	chr12:11548867-11548917	GM12891	blood:	n/a
50	chr12:11549192-11549242	HCF	heart:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB1-1	chr12:11554419-11554457	ENSG00000255790.1
2	lnc-PRB1-1	chr12:11552315-11552411	ENSG00000255790.1
3	lnc-PRB1-1	chr12:11552784-11552937	ENSG00000255790.1
4	lnc-PRB1-1	chr12:11559632-11559826	ENSG00000255790.1

No data

Variant related genes	Relation type
PRB2	TF binding region
PRB1	TF binding region
PRB2	CpG island
PRB1	CpG island

Extended variants
information (count: 1559 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372933090	chr12:11547531-11547532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2900174	chr12:11547532-11547533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
3	rs371976661	chr12:11547540-11547541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115637799	chr12:11547551-11547552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563044570	chr12:11547559-11547560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571113336	chr12:11547595-11547596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536891486	chr12:11547599-11547600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575126228	chr12:11547603-11547604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556865840	chr12:11547619-11547620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140288820	chr12:11547624-11547625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201434652	chr12:11547634-11547635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528154660	chr12:11547644-11547645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546742080	chr12:11547645-11547646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187541743	chr12:11547649-11547650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372364089	chr12:11547656-11547657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532348797	chr12:11547664-11547665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550837749	chr12:11547666-11547667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569046405	chr12:11547680-11547681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5796448	chr12:11547682-11547683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530036025	chr12:11547684-11547685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548266556	chr12:11547700-11547701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566878500	chr12:11547703-11547704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149943781	chr12:11547736-11547737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558634889	chr12:11547741-11547742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368029981	chr12:11547780-11547781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202182512	chr12:11547784-11547785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538045827	chr12:11547794-11547795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371783823	chr12:11547811-11547812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6488402	chr12:11547846-11547847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552953020	chr12:11547856-11547857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192580681	chr12:11547878-11547879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542539564	chr12:11547881-11547882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554240916	chr12:11547893-11547894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572895191	chr12:11547894-11547895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540292943	chr12:11547903-11547904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564967525	chr12:11547954-11547955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532283472	chr12:11547968-11547969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570879499	chr12:11548006-11548007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572844279	chr12:11548012-11548013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386760385	chr12:11548017-11548018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141124864	chr12:11548019-11548020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529917317	chr12:11548020-11548021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371234815	chr12:11548026-11548027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566712276	chr12:11548054-11548055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200235686	chr12:11548099-11548100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552200315	chr12:11548116-11548117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570604804	chr12:11548147-11548148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201639047	chr12:11548150-11548151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185635556	chr12:11548222-11548223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556461392	chr12:11548240-11548241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11544800-11550000	Weak transcription	HUVEC	blood vessel
2	chr12:11544800-11550200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:11550000-11550600	Enhancers	HUVEC	blood vessel
4	chr12:11550000-11550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:11550000-11551000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:11550200-11550800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:11550200-11550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11550200-11551000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:11550800-11551600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:11550800-11568400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:11551600-11551800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11560600-11561800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:11561000-11561600	Enhancers	HMEC	breast
14	chr12:11561000-11561800	Enhancers	NHEK	skin
15	chr12:11561800-11563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:11568800-11569200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:11569200-11569600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:11569200-11570000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:11570000-11579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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