Variant report

Variant	esv3378310
Chromosome Location	chr12:122800183-122800764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122800308..122802580-chr12:122806199..122807965,2	K562	blood:
2	chr12:122800426..122802982-chr12:122821173..122823608,2	K562	blood:
3	chr12:122800426..122803308-chr12:122822108..122823618,2	K562	blood:
4	chr12:122795079..122797020-chr12:122799854..122802768,2	K562	blood:
5	chr12:122791395..122793721-chr12:122797748..122800874,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150379952	chr12:122800187-122800188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10644548	chr12:122800193-122800194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60613470	chr12:122800198-122800199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7314948	chr12:122800199-122800200	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532490244	chr12:122800247-122800248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569132926	chr12:122800264-122800265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12814554	chr12:122800273-122800274	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574937974	chr12:122800322-122800323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555046382	chr12:122800323-122800324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61096099	chr12:122800337-122800338	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183607552	chr12:122800354-122800355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188318848	chr12:122800376-122800377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181031712	chr12:122800378-122800379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61138339	chr12:122800435-122800436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545309521	chr12:122800442-122800443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55797965	chr12:122800461-122800462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73404046	chr12:122800508-122800509	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184865744	chr12:122800534-122800535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561061105	chr12:122800550-122800551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528627138	chr12:122800601-122800602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56182610	chr12:122800670-122800671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546765199	chr12:122800677-122800678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189688149	chr12:122800735-122800736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139918810	chr12:122800752-122800753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552280088	chr12:122800753-122800754	Weak transcription Strong transcription	n/a	n/a	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:122763600-122812000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:122765800-122803400	Weak transcription	K562	blood
8	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122775600-122800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:122775600-122833600	Strong transcription	Liver	Liver
12	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122778000-122808800	Weak transcription	Fetal Heart	heart
14	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:122780400-122812000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:122780800-122800800	Weak transcription	Fetal Lung	lung
18	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:122782800-122803400	Weak transcription	Colonic Mucosa	Colon
20	chr12:122782800-122803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:122786200-122803200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:122787000-122803800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:122787200-122809000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:122787400-122803600	Weak transcription	Stomach Mucosa	stomach
26	chr12:122787800-122804400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:122790000-122810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
30	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:122793400-122800800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:122793400-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:122793600-122802200	Weak transcription	Fetal Kidney	kidney
34	chr12:122794400-122801000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:122794600-122802200	Weak transcription	Ovary	ovary
36	chr12:122794600-122811800	Weak transcription	Small Intestine	intestine
37	chr12:122794600-122832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:122795400-122800400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:122795400-122803000	Strong transcription	Adipose Nuclei	Adipose
40	chr12:122795600-122810600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:122795800-122801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:122795800-122818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:122796000-122802800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:122796200-122803400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:122796200-122808600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:122796400-122804000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:122796600-122804000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122796800-122801200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122796800-122802600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr12:122796800-122804200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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