Variant report

Variant	esv3489014
Chromosome Location	chr12:104489469-104491159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:104489943-104490056	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104488622..104491408-chr12:104513242..104515456,2	MCF-7	breast:
2	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
3	chr12:104483665..104486447-chr12:104488315..104490408,3	K562	blood:
4	chr12:104486649..104489523-chr12:104530965..104532834,2	MCF-7	breast:
5	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
6	chr12:104486963..104489819-chr12:104491928..104495052,4	K562	blood:
7	chr12:104323388..104326351-chr12:104487928..104489708,2	K562	blood:

No data

Variant related genes	Relation type
HCFC2	TF binding region
ENSG00000120837	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000111727	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372577091	chr12:104489491-104489492	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs185571966	chr12:104489526-104489527	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147223957	chr12:104489552-104489553	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs530854580	chr12:104489661-104489662	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs73177977	chr12:104489662-104489663	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11111893	chr12:104489703-104489704	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141857858	chr12:104489775-104489776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546410801	chr12:104489931-104489932	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570963519	chr12:104489946-104489947	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530231397	chr12:104489969-104489970	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546747300	chr12:104489989-104489990	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190036947	chr12:104490065-104490066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182420393	chr12:104490118-104490119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74623462	chr12:104490141-104490142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74518679	chr12:104490145-104490146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187062252	chr12:104490151-104490152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370973683	chr12:104490165-104490166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569215441	chr12:104490178-104490179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376296838	chr12:104490255-104490256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150634975	chr12:104490341-104490342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144003609	chr12:104490395-104490396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375869786	chr12:104490405-104490406	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557211165	chr12:104490468-104490469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573928572	chr12:104490588-104490589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542845724	chr12:104490592-104490593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139820211	chr12:104490598-104490599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73177978	chr12:104490602-104490603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545058479	chr12:104490632-104490633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76113608	chr12:104490653-104490654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143707365	chr12:104490655-104490656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544627451	chr12:104490664-104490665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73390498	chr12:104490669-104490670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112474928	chr12:104490680-104490681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10861157	chr12:104490707-104490708	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546806611	chr12:104490727-104490728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146348591	chr12:104490730-104490731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532499535	chr12:104490746-104490747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552626139	chr12:104490757-104490758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569196160	chr12:104490792-104490793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538234988	chr12:104490806-104490807	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35065186	chr12:104490903-104490904	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76730486	chr12:104490908-104490909	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184097669	chr12:104490921-104490922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2723866	chr12:104490978-104490979	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553224256	chr12:104491041-104491042	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576444717	chr12:104491044-104491045	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139717385	chr12:104491070-104491071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104460000-104496800	Weak transcription	HepG2	liver
3	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
4	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
5	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
10	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
13	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:104478200-104492800	Weak transcription	NHEK	skin
15	chr12:104478400-104492800	Weak transcription	Spleen	Spleen
16	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
17	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:104480600-104489600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:104480600-104497600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:104481000-104495000	Weak transcription	Esophagus	oesophagus
21	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
22	chr12:104481000-104500800	Weak transcription	K562	blood
23	chr12:104481200-104492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104482200-104490800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:104482400-104490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:104482400-104493000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:104482600-104491800	Weak transcription	Fetal Kidney	kidney
28	chr12:104482600-104492800	Weak transcription	Fetal Brain Male	brain
29	chr12:104482800-104492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:104483000-104490200	Weak transcription	GM12878-XiMat	blood
32	chr12:104483000-104491800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:104483200-104490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:104483200-104491800	Weak transcription	Lung	lung
35	chr12:104483200-104492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:104483200-104492800	Weak transcription	Gastric	stomach
37	chr12:104483200-104492800	Weak transcription	Pancreas	Pancrea
38	chr12:104483400-104491800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:104483400-104492400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:104483400-104492800	Weak transcription	A549	lung
41	chr12:104483600-104490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:104483600-104491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:104483600-104491800	Weak transcription	Right Ventricle	heart
44	chr12:104483800-104492800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:104483800-104493000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:104485000-104491600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:104485000-104500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:104485200-104491800	Weak transcription	Aorta	Aorta
49	chr12:104485200-104492000	Weak transcription	Thymus	Thymus
50	chr12:104485200-104493000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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