Variant report

Variant	esv1467656
Chromosome Location	chr12:124456440-124456441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
2	ATF2	chr12:124456208-124456743	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:124456182-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr12:124456382-124456621	H1-hESC	embryonic stem cell:	n/a	n/a
5	CCNT2	chr12:124456410-124458750	K562	blood:	n/a	chr12:124457953-124457962 chr12:124457619-124457628
6	CREB1	chr12:124456334-124456664	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr12:124456254-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr12:124456277-124456852	H1-hESC	embryonic stem cell:	n/a	n/a
9	CUX1	chr12:124456432-124456456	K562	blood:	n/a	n/a
10	EGR1	chr12:124456329-124456745	H1-hESC	embryonic stem cell:	n/a	chr12:124456729-124456739
11	ELF1	chr12:124456208-124456580	K562	blood:	n/a	n/a
12	ELF1	chr12:124456223-124456985	GM12878	blood:	n/a	n/a
13	EP300	chr12:124456237-124456746	H1-hESC	embryonic stem cell:	n/a	chr12:124456697-124456713
14	FOXA1	chr12:124456255-124456493	HepG2	liver:	n/a	n/a
15	FOXA1	chr12:124456206-124456504	T-47D	breast:	n/a	n/a
16	GTF2F1	chr12:124456323-124456491	H1-hESC	embryonic stem cell:	n/a	n/a
17	HDAC2	chr12:124456433-124456735	HepG2	liver:	n/a	n/a
18	HEY1	chr12:124456236-124456444	HepG2	liver:	n/a	n/a
19	IRF1	chr12:124456089-124456459	K562	blood:	n/a	n/a
20	JUND	chr12:124456268-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr12:124456330-124456608	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr12:124456323-124456523	K562	blood:	n/a	n/a
23	MAFF	chr12:124456278-124456528	HepG2	liver:	n/a	n/a
24	MAFK	chr12:124456267-124456440	HepG2	liver:	n/a	n/a
25	MAX	chr12:124456293-124456745	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr12:124456226-124456602	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr12:124456256-124456456	HepG2	liver:	n/a	n/a
28	MAZ	chr12:124455899-124458832	IMR90	lung:	n/a	chr12:124457562-124457572 chr12:124457558-124457568 chr12:124457947-124457957 chr12:124457536-124457545 chr12:124457385-124457395
29	MXI1	chr12:124455833-124459062	IMR90	lung:	n/a	n/a
30	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
31	MYBL2	chr12:124456114-124456682	HepG2	liver:	n/a	n/a
32	MYC	chr12:124456430-124456456	K562	blood:	n/a	n/a
33	NANOG	chr12:124456288-124456555	H1-hESC	embryonic stem cell:	n/a	n/a
34	NANOG	chr12:124456189-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:124456372-124456651	K562	blood:	n/a	n/a
36	POLR2A	chr12:124456052-124456607	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr12:124456091-124456768	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr12:124456292-124456622	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:124456328-124456602	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:124456425-124456511	ProgFib	skin:	n/a	n/a
41	POLR2A	chr12:124456183-124456619	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:124456252-124456452	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:124456343-124456558	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:124456265-124456614	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:124456203-124456611	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:124456215-124456731	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr12:124456192-124456485	SK-N-SH_RA	brain:	n/a	n/a
48	RCOR1	chr12:124456279-124456445	HepG2	liver:	n/a	n/a
49	RCOR1	chr12:124456234-124456590	K562	blood:	n/a	n/a
50	RCOR1	chr12:124456428-124456443	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
2	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
3	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
4	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
5	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
6	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
7	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
8	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
9	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
10	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
11	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
12	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:

No data

Variant related genes	Relation type
FAM101A	TF binding region
ZNF664	TF binding region
ENSG00000270095	TF binding region
ENSG00000269938	TF binding region
ENSG00000270061	TF binding region
ENSG00000111358	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000197653	chromatin interactions
ENSG00000270005	chromatin interactions
ENSG00000270048	chromatin interactions
ENSG00000270130	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000269997	chromatin interactions
ENSG00000139266	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000173838	chromatin interactions
ENSG00000269938	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000185344	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374749405	chr12:124456440-124456441	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs36037304	chr12:124456441-124456442	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124457400	Active TSS	Right Atrium	heart
2	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
5	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
6	chr12:124455600-124458600	Active TSS	Osteobl	bone
7	chr12:124455600-124458800	Active TSS	HMEC	breast
8	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
11	chr12:124455800-124456600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:124455800-124456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:124455800-124456600	Flanking Active TSS	HUVEC	blood vessel
14	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
16	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
17	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
18	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
23	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
25	chr12:124456000-124456600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:124456000-124456600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:124456000-124456600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr12:124456000-124456600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:124456000-124456600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:124456000-124456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:124456000-124456600	Flanking Active TSS	Hela-S3	cervix
32	chr12:124456000-124456600	Flanking Active TSS	K562	blood
33	chr12:124456000-124456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr12:124456000-124456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:124456000-124456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:124456000-124456800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr12:124456000-124456800	Active TSS	Fetal Kidney	kidney
38	chr12:124456000-124456800	Flanking Active TSS	Dnd41	blood
39	chr12:124456000-124457000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:124456000-124457000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:124456000-124457000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:124456000-124457000	Bivalent/Poised TSS	HepG2	liver
43	chr12:124456000-124458600	Active TSS	Brain Substantia Nigra	brain
44	chr12:124456000-124458600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr12:124456000-124458600	Active TSS	Psoas Muscle	Psoas
46	chr12:124456000-124458600	Active TSS	Rectal Smooth Muscle	rectum
47	chr12:124456000-124458600	Active TSS	Thymus	Thymus
48	chr12:124456000-124458800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:124456000-124458800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:124456000-124458800	Active TSS	Aorta	Aorta

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