Variant report

Variant	esv2585647
Chromosome Location	chr12:117624539-117624542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117619225..117621566-chr12:117623434..117626120,2	MCF-7	breast:
2	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
3	chr12:117624519..117626038-chr12:117626822..117628477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135108	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 69 )

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	rs372473729	chr12:117624539-117624540	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375683106	chr12:117624540-117624541	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
15	chr12:117591000-117624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:117593800-117625000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:117593800-117625600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:117593800-117625600	Strong transcription	Placenta	Placenta
19	chr12:117593800-117625800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:117594000-117625800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:117598600-117624600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:117602200-117624600	Strong transcription	Primary B cells from cord blood	blood
23	chr12:117603400-117624600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:117607800-117624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:117607800-117624600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr12:117608400-117624600	Strong transcription	Brain Cingulate Gyrus	brain
27	chr12:117609800-117624800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:117613400-117627400	Weak transcription	Small Intestine	intestine
29	chr12:117613600-117626400	Weak transcription	NHLF	lung
30	chr12:117613600-117626800	Weak transcription	Right Ventricle	heart
31	chr12:117614000-117626800	Weak transcription	Colonic Mucosa	Colon
32	chr12:117614200-117626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:117615000-117626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:117616400-117626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:117616400-117626800	Weak transcription	Psoas Muscle	Psoas
36	chr12:117616400-117627000	Weak transcription	Right Atrium	heart
37	chr12:117616600-117626000	Strong transcription	NH-A	brain
38	chr12:117616800-117626000	Weak transcription	Lung	lung
39	chr12:117617600-117625400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:117618800-117624600	Strong transcription	Fetal Kidney	kidney
41	chr12:117619400-117624600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:117619400-117624800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:117619400-117626400	Weak transcription	Fetal Heart	heart
44	chr12:117619800-117624600	Strong transcription	Brain Angular Gyrus	brain
45	chr12:117619800-117624600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:117619800-117624600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:117619800-117626400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:117620000-117626000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:117620200-117625000	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:117620200-117625400	Strong transcription	A549	lung

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