Variant report

Variant	esv2474625
Chromosome Location	chr12:31773211-31774620
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	ARID3A	chr12:31773281-31773610	HepG2	liver:	n/a	n/a
2	BACH1	chr12:31774389-31774449	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:31773359-31773551	A549	lung:	n/a	n/a
4	CEBPB	chr12:31773329-31773559	HepG2	liver:	n/a	n/a
5	EP300	chr12:31773227-31773639	HepG2	liver:	n/a	chr12:31773563-31773573
6	EP300	chr12:31773394-31773509	HepG2	liver:	n/a	n/a
7	HDAC2	chr12:31773309-31773603	HepG2	liver:	n/a	n/a
8	HNF4A	chr12:31773310-31773571	HepG2	liver:	n/a	n/a
9	HNF4A	chr12:31773308-31773555	HepG2	liver:	n/a	n/a
10	HNF4G	chr12:31773194-31773667	HepG2	liver:	n/a	chr12:31773307-31773322 chr12:31773307-31773322
11	HNF4G	chr12:31773274-31773636	HepG2	liver:	n/a	chr12:31773307-31773322 chr12:31773307-31773322
12	MAFF	chr12:31773263-31773564	HepG2	liver:	n/a	n/a
13	MAFK	chr12:31773283-31773560	HepG2	liver:	n/a	n/a
14	MAFK	chr12:31773263-31773540	HepG2	liver:	n/a	n/a
15	MXI1	chr12:31773412-31773431	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:31773297-31773623	K562	blood:	n/a	n/a
17	POLR2A	chr12:31773956-31774506	K562	blood:	n/a	n/a
18	RCOR1	chr12:31773376-31773545	HepG2	liver:	n/a	n/a
19	RFX5	chr12:31773512-31773523	HepG2	liver:	n/a	n/a
20	RFX5	chr12:31774374-31774575	K562	blood:	n/a	n/a
21	SMC3	chr12:31773412-31773564	HepG2	liver:	n/a	n/a
22	SP1	chr12:31773226-31773680	A549	lung:	n/a	n/a
23	TEAD4	chr12:31773150-31773648	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31770731..31773142-chr12:31773203..31775587,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-5	chr12:31774007-31774266	expReg_chr12_2804_+

Variant related genes	Relation type
AK4P3	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2625880	chr12:31773248-31773249	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs59867670	chr12:31773265-31773266	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs397816164	chr12:31773275-31773276	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11837587	chr12:31773287-31773288	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550253567	chr12:31773302-31773303	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377031964	chr12:31773367-31773368	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147429366	chr12:31773389-31773390	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564729809	chr12:31773396-31773397	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs67161976	chr12:31773409-31773410	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551361397	chr12:31773427-31773428	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs117715016	chr12:31773445-31773446	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549357035	chr12:31773454-31773455	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs571387596	chr12:31773465-31773466	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187472333	chr12:31773468-31773469	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547580516	chr12:31773469-31773470	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192022166	chr12:31773499-31773500	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2679486	chr12:31773506-31773507	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185043881	chr12:31773518-31773519	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs139805814	chr12:31773609-31773610	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538667120	chr12:31773642-31773643	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558474865	chr12:31773676-31773677	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572214323	chr12:31773736-31773737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58670311	chr12:31773758-31773759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2625879	chr12:31773762-31773763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565704482	chr12:31773774-31773775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541206244	chr12:31773793-31773794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189558432	chr12:31773805-31773806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554833687	chr12:31773806-31773807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570151356	chr12:31773812-31773813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370489745	chr12:31773833-31773834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2617198	chr12:31773847-31773848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113799989	chr12:31773932-31773933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367572056	chr12:31773962-31773963	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs180910094	chr12:31773972-31773973	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376005502	chr12:31773985-31773986	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563986733	chr12:31774010-31774011	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs532827474	chr12:31774028-31774029	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs551400256	chr12:31774029-31774030	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs533100980	chr12:31774071-31774072	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs564831066	chr12:31774126-31774127	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs541325935	chr12:31774146-31774147	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs527271683	chr12:31774156-31774157	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs74872615	chr12:31774234-31774235	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs76506545	chr12:31774245-31774246	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs72346724	chr12:31774258-31774259	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs60028684	chr12:31774262-31774263	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs2049116	chr12:31774283-31774284	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73090522	chr12:31774409-31774410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569615445	chr12:31774433-31774434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563580670	chr12:31774446-31774447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31771200-31774600	Enhancers	Fetal Intestine Large	intestine
2	chr12:31771400-31775400	Enhancers	Fetal Intestine Small	intestine
3	chr12:31771600-31773600	Enhancers	HepG2	liver
4	chr12:31773000-31773600	Enhancers	A549	lung
5	chr12:31773600-31782600	Weak transcription	A549	lung

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