Variant report

Variant	esv2830232
Chromosome Location	chr12:58470456-58498926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:58479834-58480082	GM12878	blood:	n/a	chr12:58479989-58480000
2	BHLHE40	chr12:58481302-58481476	K562	blood:	n/a	n/a
3	BRCA1	chr12:58475354-58475627	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:58484281-58484493	K562	blood:	n/a	chr12:58484304-58484317 chr12:58484402-58484413
5	CEBPB	chr12:58484281-58484518	IMR90	lung:	n/a	chr12:58484304-58484317 chr12:58484402-58484413
6	CEBPB	chr12:58484294-58484531	HepG2	liver:	n/a	chr12:58484304-58484317 chr12:58484402-58484413
7	CEBPB	chr12:58484256-58484587	A549	lung:	n/a	chr12:58484304-58484317 chr12:58484402-58484413
8	CEBPB	chr12:58475293-58475738	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr12:58475308-58475626	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:58484520-58484670	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr12:58475540-58475690	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:58488460-58488610	GM12878	blood:	n/a	n/a
13	CTCF	chr12:58475534-58475640	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:58483700-58483850	GM12866	blood:	n/a	n/a
15	CTCF	chr12:58480880-58481030	GM12867	blood:	n/a	n/a
16	CTCF	chr12:58475540-58475690	HCT-116	colon:	n/a	n/a
17	E2F6	chr12:58481199-58481852	H1-hESC	embryonic stem cell:	n/a	chr12:58481669-58481679
18	EP300	chr12:58475346-58475638	Hela-S3	cervix:	n/a	n/a
19	FOS	chr12:58475393-58475544	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:58475416-58475615	MCF10A-Er-Src	breast:	n/a	chr12:58475539-58475549
21	FOSL2	chr12:58479740-58480234	MCF-7	breast:	n/a	n/a
22	GATA3	chr12:58479381-58480419	MCF-7	breast:	n/a	n/a
23	GATA3	chr12:58479751-58480386	MCF-7	breast:	n/a	n/a
24	GATA3	chr12:58479761-58480265	MCF-7	breast:	n/a	n/a
25	GTF2F1	chr12:58475278-58475635	Hela-S3	cervix:	n/a	n/a
26	HDAC2	chr12:58479781-58480338	MCF-7	breast:	n/a	n/a
27	JUN	chr12:58491667-58491834	HepG2	liver:	n/a	chr12:58491728-58491741
28	JUND	chr12:58479957-58480055	HepG2	liver:	n/a	chr12:58479987-58479998
29	JUND	chr12:58479661-58480400	MCF-7	breast:	n/a	chr12:58479987-58479998
30	JUND	chr12:58491638-58491894	HepG2	liver:	n/a	n/a
31	MAFF	chr12:58492308-58492425	HepG2	liver:	n/a	chr12:58492317-58492335
32	MAFK	chr12:58489890-58490160	HepG2	liver:	n/a	n/a
33	MAFK	chr12:58493389-58493510	K562	blood:	n/a	n/a
34	MAFK	chr12:58489951-58490130	HepG2	liver:	n/a	n/a
35	MAFK	chr12:58492303-58492396	HepG2	liver:	n/a	n/a
36	MAX	chr12:58481403-58481417	NB4	blood:	n/a	n/a
37	MAX	chr12:58475350-58475559	Hela-S3	cervix:	n/a	n/a
38	MAX	chr12:58481245-58481537	H1-hESC	embryonic stem cell:	n/a	chr12:58481412-58481422
39	MAZ	chr12:58475379-58475574	Hela-S3	cervix:	n/a	n/a
40	NFYA	chr12:58481259-58481307	Hela-S3	cervix:	n/a	n/a
41	NFYA	chr12:58481109-58481499	K562	blood:	n/a	chr12:58481299-58481317
42	NFYB	chr12:58481082-58481492	K562	blood:	n/a	n/a
43	NFYB	chr12:58481254-58481448	GM12878	blood:	n/a	n/a
44	NR2F2	chr12:58479720-58480303	MCF-7	breast:	n/a	n/a
45	NR2F2	chr12:58479676-58480340	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:58480107-58480115	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:58493170-58493253	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr12:58475325-58475649	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr12:58475294-58475596	Hela-S3	cervix:	n/a	n/a
50	RFX5	chr12:58475301-58475706	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58475657..58477578-chr12:58477868..58480225,2	MCF-7	breast:
2	chr12:58471661..58473367-chr12:58475454..58477748,2	MCF-7	breast:
3	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
4	chr12:58474355..58476950-chr12:58494069..58496822,2	MCF-7	breast:
5	chr12:58471661..58473367-chr12:58475454..58477748,2	MCF-7	breast:
6	chr12:58475657..58477578-chr12:58477868..58480225,2	MCF-7	breast:
7	chr12:58461282..58462971-chr12:58479054..58481016,2	MCF-7	breast:
8	chr12:58460244..58462054-chr12:58476123..58478846,2	MCF-7	breast:
9	chr12:58469881..58471988-chr12:58473422..58476197,2	K562	blood:
10	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
11	chr12:58463095..58465569-chr12:58476759..58478479,2	K562	blood:
12	chr12:58469881..58471988-chr12:58473422..58476197,2	K562	blood:
13	chr12:58474355..58476950-chr12:58494069..58496822,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSP2-3	chr12:58483249-58483381	XLOC_010103
2	lnc-CTDSP2-3	chr12:58484638-58484682	XLOC_010103
3	lnc-XRCC6BP1-2	chr12:58487110-58487145	ENSG00000257541.1
4	lnc-CTDSP2-4	chr12:58488697-58491796	ENSG00000264432.1
5	lnc-CTDSP2-4	chr12:58490532-58491796	NONHSAT029020
6	lnc-XRCC6BP1-6	chr12:58497690-58499718	NONHSAT029021
7	lnc-XRCC6BP1-2	chr12:58481991-58482104	ENSG00000257541.1
8	lnc-XRCC6BP1-2	chr12:58481675-58481895	ENSG00000257541.1
9	lnc-CTDSP2-4	chr12:58488696-58488894	XLOC_010104
10	lnc-CTDSP2-4	chr12:58491564-58491865	NONHSAT029017
11	lnc-CTDSP2-4	chr12:58488697-58489622	NONHSAT029020
12	lnc-CTDSP2-3	chr12:58475010-58475216	XLOC_010103
13	lnc-CTDSP2-4	chr12:58491565-58491865	XLOC_010104
14	lnc-XRCC6BP1-2	chr12:58482221-58482333	ENSG00000257541.1
15	lnc-CTDSP2-4	chr12:58488695-58488894	NONHSAT029017

No data

Variant related genes	Relation type
ENSG00000257541	TF binding region
C3orf18	miRNA target sites
MITF	miRNA target sites
CCR9	miRNA target sites

Extended variants
information (count: 967 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4505105	chr12:58470456-58470457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367944340	chr12:58470470-58470471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562091337	chr12:58470567-58470568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530911266	chr12:58470574-58470575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550959954	chr12:58470576-58470577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577423439	chr12:58470609-58470610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75715294	chr12:58470624-58470625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568631057	chr12:58470666-58470667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11424755	chr12:58470667-58470668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201097708	chr12:58470684-58470685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184483805	chr12:58470691-58470692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553669700	chr12:58470718-58470719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35361300	chr12:58470756-58470757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572035163	chr12:58470766-58470767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542589049	chr12:58470767-58470768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560765711	chr12:58470795-58470796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531434495	chr12:58470804-58470805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73339735	chr12:58470807-58470808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563033358	chr12:58470824-58470825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73339737	chr12:58470836-58470837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533228638	chr12:58470847-58470848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552076536	chr12:58470879-58470880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567150425	chr12:58470883-58470884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11172458	chr12:58470910-58470911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7960227	chr12:58470933-58470934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150178274	chr12:58470945-58470946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111546249	chr12:58471002-58471003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76727324	chr12:58471003-58471004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567554572	chr12:58471008-58471009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538295186	chr12:58471035-58471036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189049480	chr12:58471045-58471046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79132738	chr12:58471046-58471047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538422731	chr12:58471067-58471068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148884523	chr12:58471071-58471072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572291947	chr12:58471117-58471118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542605791	chr12:58471159-58471160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193101500	chr12:58471255-58471256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554505500	chr12:58471271-58471272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59534341	chr12:58471295-58471296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115244930	chr12:58471313-58471314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543511096	chr12:58471380-58471381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369567681	chr12:58471412-58471413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2659663	chr12:58471457-58471458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2720171	chr12:58471473-58471474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545603281	chr12:58471488-58471489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538425582	chr12:58471518-58471519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78548876	chr12:58471547-58471548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184285511	chr12:58471615-58471616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7295532	chr12:58471653-58471654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567616072	chr12:58471689-58471690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58466200-58473600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58469800-58472000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:58472000-58472200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:58472200-58481000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:58472600-58474200	Enhancers	Brain Germinal Matrix	brain
6	chr12:58473600-58474000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:58473600-58476000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:58473800-58475600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:58473800-58475600	Enhancers	HMEC	breast
10	chr12:58474800-58476000	Enhancers	Hela-S3	cervix
11	chr12:58474800-58477200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:58475000-58475200	Enhancers	NHEK	skin
13	chr12:58475000-58476000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:58475200-58475600	Enhancers	Fetal Muscle Leg	muscle
15	chr12:58475200-58475600	Enhancers	Psoas Muscle	Psoas
16	chr12:58475600-58482800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:58476000-58479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:58476000-58480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:58477200-58479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:58477800-58481000	Weak transcription	Left Ventricle	heart
21	chr12:58479000-58484200	Weak transcription	Pancreas	Pancrea
22	chr12:58479800-58480400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:58480400-58481200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:58480400-58481800	Enhancers	Psoas Muscle	Psoas
25	chr12:58480600-58481000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:58481000-58481200	Enhancers	Left Ventricle	heart
27	chr12:58481000-58481200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:58481000-58482000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:58481000-58482000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:58481000-58482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:58481000-58482200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:58481000-58482600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:58481200-58481600	Weak transcription	Left Ventricle	heart
34	chr12:58481200-58482000	Enhancers	Right Ventricle	heart
35	chr12:58481200-58482200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:58481200-58486800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:58481600-58481800	Enhancers	Left Ventricle	heart
38	chr12:58481600-58482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:58481800-58482200	Enhancers	Fetal Heart	heart
40	chr12:58481800-58482400	Weak transcription	Psoas Muscle	Psoas
41	chr12:58481800-58482800	Enhancers	Fetal Lung	lung
42	chr12:58481800-58482800	Weak transcription	Left Ventricle	heart
43	chr12:58482000-58485200	Weak transcription	Right Ventricle	heart
44	chr12:58482200-58486800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:58482400-58483200	Enhancers	Psoas Muscle	Psoas
46	chr12:58482800-58483000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:58482800-58483200	Enhancers	Left Ventricle	heart
48	chr12:58483200-58485200	Weak transcription	Left Ventricle	heart
49	chr12:58484200-58485600	Enhancers	Pancreas	Pancrea
50	chr12:58485200-58485400	Enhancers	Right Ventricle	heart

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