Variant report

Variant	esv3513714
Chromosome Location	chr12:122230004-122230068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122188669..122193873-chr12:122227176..122233304,8	MCF-7	breast:
2	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
3	chr12:122229858..122230791-chr9:130186123..130186701,2	Hela-S3	cervix:
4	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
5	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
6	chr12:120727170..120730056-chr12:122229573..122231675,2	MCF-7	breast:
7	chr12:122229616..122230309-chr7:23145320..23146072,2	Hela-S3	cervix:
8	chr12:122229734..122230507-chr2:69664172..69665149,2	Hela-S3	cervix:
9	chr12:122149249..122152147-chr12:122229581..122233327,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202538	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000196152	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000110801	chromatin interactions
ENSG00000169599	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547137376	chr12:122230009-122230010	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs181965810	chr12:122230021-122230022	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs527357706	chr12:122230054-122230055	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122206400-122230600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:122211600-122231200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:122211800-122231600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:122217800-122230400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:122219200-122230600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122219200-122230600	Weak transcription	Fetal Brain Female	brain
7	chr12:122219600-122230800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122220400-122230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:122220400-122230600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:122220600-122230400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:122220600-122230400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:122221200-122230600	Weak transcription	Right Atrium	heart
13	chr12:122223200-122231400	Weak transcription	HSMM	muscle
14	chr12:122224600-122231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:122224800-122231000	Weak transcription	Osteobl	bone
16	chr12:122225200-122231400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:122225400-122231000	Weak transcription	Pancreas	Pancrea
18	chr12:122225600-122230400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:122225800-122233200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:122227200-122231600	Weak transcription	K562	blood
21	chr12:122227400-122232000	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:122227600-122230400	Weak transcription	Small Intestine	intestine
23	chr12:122227800-122230200	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:122227800-122230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122228200-122230600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:122228200-122230800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr12:122228400-122230200	Weak transcription	Liver	Liver
28	chr12:122228400-122230800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:122228400-122231000	Weak transcription	NH-A	brain
30	chr12:122228400-122231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122228600-122230200	Weak transcription	Lung	lung
32	chr12:122228600-122230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122228600-122230600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122228600-122230600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:122228600-122230600	Weak transcription	Right Ventricle	heart
36	chr12:122228600-122230800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:122228600-122232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122228800-122230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:122228800-122230200	Active TSS	Colonic Mucosa	Colon
40	chr12:122228800-122230600	Weak transcription	Gastric	stomach
41	chr12:122229200-122230200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:122229200-122230200	Enhancers	Placenta	Placenta
43	chr12:122229200-122230400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:122229200-122230400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:122229200-122230600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:122229200-122230600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:122229200-122230600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:122229200-122230800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr12:122229200-122230800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:122229200-122230800	Flanking Active TSS	GM12878-XiMat	blood

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