Variant report

Variant	esv3397115
Chromosome Location	chr2:179995594-179995922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179988043..179990926-chr2:179994238..179996343,2	K562	blood:

Variant related genes	Relation type
ENSG00000238339	chromatin interactions
ENSG00000187231	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80087732	chr2:179995607-179995608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12693175	chr2:179995632-179995633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs556014814	chr2:179995652-179995653	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530552940	chr2:179995676-179995677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550373685	chr2:179995677-179995678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370104472	chr2:179995692-179995693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187324258	chr2:179995709-179995710	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138382480	chr2:179995767-179995768	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547218123	chr2:179995770-179995771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575907237	chr2:179995786-179995787	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35709120	chr2:179995793-179995794	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs16866647	chr2:179995802-179995803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17454164	chr2:179995839-179995840	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373940156	chr2:179995859-179995860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569130282	chr2:179995905-179995906	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564678790	chr2:179995906-179995907	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179967800-180004400	Weak transcription	Esophagus	oesophagus
2	chr2:179970000-180004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:179971600-180012600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:179972000-180005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179972000-180005200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:179972600-180001800	Weak transcription	NHEK	skin
7	chr2:179972800-180014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:179973000-180007200	Weak transcription	GM12878-XiMat	blood
9	chr2:179973400-180004400	Weak transcription	Pancreas	Pancrea
10	chr2:179973400-180006800	Weak transcription	Small Intestine	intestine
11	chr2:179973400-180012600	Weak transcription	NHLF	lung
12	chr2:179973400-180030200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:179976000-180004400	Weak transcription	Aorta	Aorta
15	chr2:179977400-180004400	Weak transcription	Lung	lung
16	chr2:179977400-180005000	Weak transcription	Fetal Kidney	kidney
17	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
18	chr2:179977600-180002000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:179978200-180014600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:179978800-180004400	Weak transcription	Spleen	Spleen
21	chr2:179980000-180038800	Weak transcription	HMEC	breast
22	chr2:179980000-180056800	Weak transcription	HSMM	muscle
23	chr2:179980400-180005200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:179980400-180005600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:179981400-180001800	Weak transcription	Placenta	Placenta
26	chr2:179981400-180005000	Weak transcription	Ovary	ovary
27	chr2:179981400-180016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:179981600-179997600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:179981600-180004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:179981600-180005000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:179981800-180005400	Weak transcription	Osteobl	bone
32	chr2:179982400-180004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:179982800-180004400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:179982800-180004600	Weak transcription	Fetal Brain Male	brain
35	chr2:179983600-180005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:179984600-180003000	Weak transcription	Fetal Lung	lung
37	chr2:179984600-180004600	Weak transcription	HUVEC	blood vessel
38	chr2:179984800-180002000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:179984800-180004200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:179984800-180005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:179985000-180025600	Weak transcription	Fetal Intestine Small	intestine
42	chr2:179985200-180004400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:179985200-180004400	Weak transcription	Fetal Stomach	stomach
44	chr2:179985400-180004000	Weak transcription	Dnd41	blood
45	chr2:179985600-179996200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:179985600-180005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:179985800-180004000	Weak transcription	Fetal Intestine Large	intestine
48	chr2:179985800-180004400	Weak transcription	Fetal Brain Female	brain
49	chr2:179985800-180004400	Weak transcription	Left Ventricle	heart
50	chr2:179985800-180005800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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