Variant report

Variant	esv275025
Chromosome Location	chr12:4441705-4462505
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	CEBPB	chr12:4459156-4459384	K562	blood:	n/a	n/a
2	E2F4	chr12:4449614-4449796	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr12:4458995-4459194	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:4458874-4459192	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:4458873-4459222	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:4458877-4459226	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr12:4456218-4456456	MCF-7	breast:	n/a	n/a
8	MAFK	chr12:4457524-4457752	HepG2	liver:	n/a	chr12:4457608-4457622 chr12:4457605-4457621 chr12:4457610-4457621 chr12:4457610-4457621 chr12:4457609-4457620
9	MAFK	chr12:4445949-4446021	HepG2	liver:	n/a	n/a
10	MYC	chr12:4458988-4459219	MCF10A-Er-Src	breast:	n/a	n/a
11	NFYA	chr12:4458207-4458333	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:4447965-4448096	Gliobla	brain:	n/a	n/a
13	POLR2A	chr12:4461226-4461320	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:4462027-4462038	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:4447021-4447184	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:4457212-4457249	A549	lung:	n/a	n/a
17	STAT3	chr12:4458867-4459227	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr12:4458813-4459470	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr12:4458867-4459235	MCF10A-Er-Src	breast:	n/a	n/a
20	YY1	chr12:4450357-4450528	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4439917..4442636-chr12:4444494..4446286,2	MCF-7	breast:
2	chr12:4426548..4433577-chr12:4433933..4442534,18	MCF-7	breast:
3	chr12:4429270..4432113-chr12:4445178..4447494,2	MCF-7	breast:

Variant related genes	Relation type
C12orf5	TF binding region
ENSG00000078237	chromatin interactions

Extended variants
information (count: 806 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543734038	chr12:4441709-4441710	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34464165	chr12:4441824-4441825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78492628	chr12:4441842-4441843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577157927	chr12:4441850-4441851	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546174188	chr12:4441873-4441874	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559897621	chr12:4441889-4441890	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs137951063	chr12:4441891-4441892	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10849040	chr12:4441906-4441907	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs367549448	chr12:4442019-4442020	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546957178	chr12:4442041-4442042	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149456655	chr12:4442074-4442075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145977068	chr12:4442075-4442076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528730257	chr12:4442096-4442097	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568324369	chr12:4442128-4442129	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549799080	chr12:4442168-4442169	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563343385	chr12:4442248-4442249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4238019	chr12:4442282-4442283	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551714809	chr12:4442291-4442292	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4766233	chr12:4442451-4442452	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34834660	chr12:4442460-4442461	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397766258	chr12:4442473-4442474	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534383718	chr12:4442482-4442483	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548789525	chr12:4442512-4442513	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574348015	chr12:4442516-4442517	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4766234	chr12:4442517-4442518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113829455	chr12:4442548-4442549	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557374903	chr12:4442560-4442561	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146234499	chr12:4442567-4442568	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539860587	chr12:4442571-4442572	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538237333	chr12:4442599-4442600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553377439	chr12:4442605-4442606	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4766235	chr12:4442659-4442660	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541942750	chr12:4442661-4442662	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561178617	chr12:4442679-4442680	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574545307	chr12:4442680-4442681	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543555376	chr12:4442696-4442697	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568855165	chr12:4442714-4442715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532239182	chr12:4442715-4442716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376576040	chr12:4442727-4442728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs186286302	chr12:4442730-4442731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528203442	chr12:4442737-4442738	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547964838	chr12:4442775-4442776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568681822	chr12:4442777-4442778	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191987044	chr12:4442783-4442784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551122116	chr12:4442795-4442796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571187383	chr12:4442824-4442825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142735955	chr12:4442881-4442882	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12819556	chr12:4442890-4442891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs573265415	chr12:4442913-4442914	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535992591	chr12:4442920-4442921	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4443400	Weak transcription	Aorta	Aorta
2	chr12:4431200-4444600	Weak transcription	HSMMtube	muscle
3	chr12:4431200-4446400	Weak transcription	Fetal Stomach	stomach
4	chr12:4431200-4446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
7	chr12:4431400-4445800	Weak transcription	Fetal Thymus	thymus
8	chr12:4431400-4446200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:4431400-4446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:4431400-4446400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:4431600-4443200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4431600-4443200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:4431600-4444800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:4431600-4445800	Weak transcription	Liver	Liver
15	chr12:4431600-4446400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:4431600-4446400	Weak transcription	Right Ventricle	heart
17	chr12:4431600-4446400	Weak transcription	Spleen	Spleen
18	chr12:4431600-4446800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:4431600-4449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
24	chr12:4431800-4443000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:4431800-4443200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:4431800-4444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:4431800-4444600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:4431800-4444800	Weak transcription	NH-A	brain
29	chr12:4431800-4446400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:4431800-4447200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:4432000-4443200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:4432000-4443200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:4432000-4443800	Weak transcription	NHDF-Ad	bronchial
34	chr12:4432000-4444800	Weak transcription	Hela-S3	cervix
35	chr12:4432000-4448600	Weak transcription	Fetal Brain Female	brain
36	chr12:4432000-4450200	Weak transcription	Stomach Mucosa	stomach
37	chr12:4432200-4441800	Weak transcription	Osteobl	bone
38	chr12:4432200-4443200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:4432200-4445600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:4432200-4448000	Weak transcription	Right Atrium	heart
41	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
42	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
43	chr12:4432400-4443200	Weak transcription	Left Ventricle	heart
44	chr12:4432600-4445800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:4432800-4446200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:4433000-4443200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:4433000-4446800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:4433000-4447000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:4433000-4447000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:4433200-4443000	Weak transcription	Primary B cells from peripheral blood	blood

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