Variant report

Variant	esv14748
Chromosome Location	chr12:50097299-50098198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:50096327-50097968	GM12878	blood:	n/a	n/a
2	ATF2	chr12:50097132-50097895	GM12878	blood:	n/a	n/a
3	BATF	chr12:50097360-50097783	GM12878	blood:	n/a	chr12:50097598-50097609 chr12:50097599-50097609
4	BCLAF1	chr12:50097379-50097942	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:50097507-50097518	K562	blood:	n/a	n/a
6	BHLHE40	chr12:50097414-50097850	GM12878	blood:	n/a	n/a
7	CHD1	chr12:50097126-50098133	GM12878	blood:	n/a	n/a
8	CHD2	chr12:50097132-50097691	GM12878	blood:	n/a	n/a
9	CUX1	chr12:50096462-50098058	GM12878	blood:	n/a	n/a
10	EBF1	chr12:50097418-50097864	GM12878	blood:	n/a	n/a
11	EBF1	chr12:50096230-50098035	GM12878	blood:	n/a	n/a
12	EBF1	chr12:50097442-50097816	GM12878	blood:	n/a	n/a
13	ELK1	chr12:50097598-50097603	GM12878	blood:	n/a	n/a
14	EP300	chr12:50097286-50097826	GM12878	blood:	n/a	n/a
15	EP300	chr12:50097552-50097883	GM12878	blood:	n/a	n/a
16	EP300	chr12:50097598-50097744	GM12878	blood:	n/a	n/a
17	FOS	chr12:50097622-50097762	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:50097449-50098043	HUVEC	blood vessel:	n/a	chr12:50097794-50097804 chr12:50097794-50097804 chr12:50097794-50097804 chr12:50097795-50097803
19	FOXM1	chr12:50096619-50097896	GM12878	blood:	n/a	n/a
20	GATA3	chr12:50097287-50098079	SK-N-SH	brain:	n/a	chr12:50097741-50097748
21	GATA3	chr12:50097381-50098078	SK-N-SH	brain:	n/a	chr12:50097741-50097748
22	IKZF1	chr12:50097122-50097835	GM12878	blood:	n/a	n/a
23	JUND	chr12:50097492-50097819	K562	blood:	n/a	chr12:50097794-50097804 chr12:50097794-50097804 chr12:50097794-50097804 chr12:50097795-50097803
24	MAFK	chr12:50097475-50097896	K562	blood:	n/a	chr12:50097598-50097608 chr12:50097599-50097608
25	MAFK	chr12:50097438-50097846	IMR90	lung:	n/a	chr12:50097598-50097608 chr12:50097599-50097608
26	MAX	chr12:50097221-50097826	GM12878	blood:	n/a	n/a
27	MAZ	chr12:50097559-50097677	K562	blood:	n/a	n/a
28	MAZ	chr12:50097504-50097744	GM12878	blood:	n/a	n/a
29	MTA3	chr12:50096234-50098299	GM12878	blood:	n/a	n/a
30	MXI1	chr12:50097380-50098033	GM12878	blood:	n/a	n/a
31	NFATC1	chr12:50096551-50097867	GM12878	blood:	n/a	n/a
32	NFATC1	chr12:50097206-50098146	GM12878	blood:	n/a	n/a
33	NFIC	chr12:50096569-50098087	GM12878	blood:	n/a	chr12:50097245-50097261
34	NRF1	chr12:50097346-50097536	GM12878	blood:	n/a	n/a
35	PBX3	chr12:50097306-50097910	SK-N-SH	brain:	n/a	n/a
36	PBX3	chr12:50097448-50097604	GM12878	blood:	n/a	n/a
37	PML	chr12:50096168-50098000	GM12878	blood:	n/a	chr12:50096534-50096542
38	POLR2A	chr12:50096336-50098350	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:50096279-50098500	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:50096717-50097991	GM12891	blood:	n/a	n/a
41	POLR2A	chr12:50096453-50098183	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:50096596-50098032	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:50096573-50097824	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:50097837-50097842	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:50097423-50097813	U87	brain:	n/a	n/a
47	POLR2A	chr12:50097145-50097765	GM12891	blood:	n/a	n/a
48	POLR2A	chr12:50096388-50098091	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:50096215-50098262	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:50096293-50101579	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50097773-50097823	HCF	heart:	n/a
2	chr12:50097773-50097823	ovcar-3	ovarian:	n/a
3	chr12:50097773-50097823	K562	blood:	n/a
4	chr12:50097773-50097823	HCPEpiC	choroid plexus:	n/a
5	chr12:50097773-50097823	NH-A	brain:	n/a
6	chr12:50097773-50097823	SKMC	muscle:	n/a
7	chr12:50097773-50097823	AG10803	skin:	n/a
8	chr12:50097773-50097823	HL-60	blood:	n/a
9	chr12:50097773-50097823	GM19239	blood:	n/a
10	chr12:50097773-50097823	SK-N-MC	brain:	n/a
11	chr12:50097773-50097823	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:50097773-50097823	NB4	blood:	n/a
13	chr12:50097773-50097823	AG09319	gingival:	n/a
14	chr12:50097773-50097823	Jurkat	blood:	n/a
15	chr12:50097773-50097823	IMR90	lung:	fetal
16	chr12:50097773-50097823	NT2-D1	testis:	n/a
17	chr12:50097773-50097823	SK-N-SH	brain:	n/a
18	chr12:50097773-50097823	A549	lung:	n/a
19	chr12:50097773-50097823	BJ	skin:	n/a
20	chr12:50097773-50097823	CMK	blood:	n/a
21	chr12:50097773-50097823	Caco-2	colon:	n/a
22	chr12:50097773-50097823	PANC-1	pancreas:	n/a
23	chr12:50097773-50097823	MCF10A-Er-Src	breast:	n/a
24	chr12:50097773-50097823	AG04450	lung:	fetal
25	chr12:50097773-50097823	Hepatocyte	liver:	n/a
26	chr12:50097773-50097823	HEK293	kidney:	embryo
27	chr12:50097773-50097823	NHDF-neo	bronchial:	n/a
28	chr12:50097773-50097823	LNCaP	prostate:	n/a
29	chr12:50097773-50097823	PFSK-1	brain:	n/a
30	chr12:50097773-50097823	RPTEC	kidney:	n/a
31	chr12:50097773-50097823	SAEC	small airway:	n/a
32	chr12:50097773-50097823	GM06990	blood:	n/a
33	chr12:50097773-50097823	HepG2	liver:	n/a
34	chr12:50097773-50097823	BE2_C	brain:	n/a
35	chr12:50097773-50097823	HUVEC	blood vessel:	n/a
36	chr12:50097773-50097823	ProgFib	skin:	n/a
37	chr12:50097773-50097823	HAEpiC	amniotic membrane:	n/a
38	chr12:50097773-50097823	HEEpiC	esophagus:	n/a
39	chr12:50097773-50097823	HRPEpiC	eye:	n/a
40	chr12:50097773-50097823	GM12891	blood:	n/a
41	chr12:50097773-50097823	HRE	kidney:	n/a
42	chr12:50097773-50097823	HRCEpiC	kidney:	n/a
43	chr12:50097773-50097823	ECC-1	luminal epithelium:	n/a
44	chr12:50097773-50097823	SK-N-SH_RA	brain:	n/a
45	chr12:50097773-50097823	HMEC	breast:	n/a
46	chr12:50097773-50097823	HCM	heart:	n/a
47	chr12:50097773-50097823	HNPCEpiC	eye:	n/a
48	chr12:50097773-50097823	MCF-7	breast:	n/a
49	chr12:50097773-50097823	PrEC	prostate:	n/a
50	chr12:50097773-50097823	Hela-S3	cervix:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
2	chr12:50097487..50099802-chr12:50102070..50104731,2	MCF-7	breast:
3	chr12:50067389..50069514-chr12:50096557..50099355,2	MCF-7	breast:
4	chr12:50066175..50068343-chr12:50098186..50100084,3	K562	blood:
5	chr12:50080608..50083488-chr12:50095334..50097821,2	MCF-7	breast:
6	chr12:50046987..50048509-chr12:50096714..50099634,2	MCF-7	breast:
7	chr12:50039220..50042213-chr12:50096453..50098982,2	MCF-7	breast:
8	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:
9	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
10	chr12:50095907..50097744-chr12:50102018..50104730,2	K562	blood:
11	chr12:50090621..50092463-chr12:50096171..50099106,4	K562	blood:
12	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
13	chr12:50030096..50031620-chr12:50098053..50100188,2	MCF-7	breast:
14	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257570	TF binding region
TMBIM6	TF binding region
ENSG00000257570	CpG island
TMBIM6	CpG island
ENSG00000110844	chromatin interactions
ENSG00000257570	chromatin interactions
ENSG00000139644	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553410523	chr12:50097329-50097330	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs11169117	chr12:50097331-50097332	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs578055709	chr12:50097377-50097378	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186725265	chr12:50097447-50097448	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs574470028	chr12:50097454-50097455	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs530466941	chr12:50097456-50097457	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs190777773	chr12:50097495-50097496	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs115960915	chr12:50097557-50097558	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529821483	chr12:50097569-50097570	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs546780712	chr12:50097627-50097628	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs147771837	chr12:50097669-50097670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs181862979	chr12:50097677-50097678	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs558611524	chr12:50097691-50097692	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs34073747	chr12:50097767-50097768	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs373909937	chr12:50097773-50097774	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537097137	chr12:50097774-50097775	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs554282590	chr12:50097825-50097826	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs139423349	chr12:50097859-50097860	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs149961971	chr12:50097861-50097862	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs572444857	chr12:50097905-50097906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376906406	chr12:50097941-50097942	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs553131242	chr12:50097960-50097961	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs61281663	chr12:50098005-50098006	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564284735	chr12:50098111-50098112	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs563430749	chr12:50098131-50098132	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50093200-50097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:50093200-50098200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:50093200-50098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:50093200-50098800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:50093200-50099200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:50093200-50099600	Weak transcription	Fetal Heart	heart
7	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
8	chr12:50093400-50097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:50093400-50098600	Weak transcription	Right Ventricle	heart
10	chr12:50093400-50098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50093400-50099200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:50093400-50099200	Weak transcription	Colonic Mucosa	Colon
13	chr12:50093400-50099800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:50093800-50099200	Enhancers	Primary B cells from cord blood	blood
15	chr12:50094800-50099400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:50095200-50098200	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:50095600-50097400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:50095600-50099400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50095800-50097400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:50095800-50097400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:50095800-50097600	Enhancers	Spleen	Spleen
22	chr12:50095800-50097800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:50095800-50097800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:50095800-50098000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:50095800-50098200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:50095800-50098800	Enhancers	Fetal Muscle Leg	muscle
27	chr12:50095800-50099000	Enhancers	Fetal Lung	lung
28	chr12:50095800-50099000	Enhancers	Left Ventricle	heart
29	chr12:50095800-50099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:50095800-50099400	Enhancers	Fetal Thymus	thymus
31	chr12:50095800-50100000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:50096000-50097400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:50096000-50099200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:50096200-50097400	Enhancers	Osteobl	bone
35	chr12:50096200-50097600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:50096200-50098000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:50096400-50097400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:50096400-50097400	Enhancers	Brain Angular Gyrus	brain
39	chr12:50096400-50097400	Enhancers	Brain Germinal Matrix	brain
40	chr12:50096400-50097400	Enhancers	Fetal Kidney	kidney
41	chr12:50096400-50097600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:50096400-50097600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:50096400-50097600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:50096400-50097600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:50096400-50097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:50096400-50097600	Enhancers	NHLF	lung
47	chr12:50096400-50097800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:50096400-50097800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:50096400-50098000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:50096400-50098000	Enhancers	Adipose Nuclei	Adipose

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