Variant report

Variant	esv3391839
Chromosome Location	chr2:189916453-189916677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189914628..189916476-chr2:189916492..189919239,2	MCF-7	breast:
2	chr2:189914628..189916476-chr2:189916492..189919239,2	MCF-7	breast:
3	chr2:189915072..189917343-chr2:189920617..189923059,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547964971	chr2:189916479-189916480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7423973	chr2:189916513-189916514	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536326485	chr2:189916531-189916532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554628670	chr2:189916532-189916533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569636857	chr2:189916566-189916567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112282365	chr2:189916574-189916575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537352824	chr2:189916609-189916610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13405822	chr2:189916611-189916612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7423988	chr2:189916634-189916635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189917400	Weak transcription	Ovary	ovary
2	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
3	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
5	chr2:189895200-189940800	Strong transcription	HSMM	muscle
6	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
8	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
10	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189897200-189934400	Weak transcription	Gastric	stomach
12	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:189897600-189934000	Weak transcription	Lung	lung
15	chr2:189898400-189938200	Weak transcription	HMEC	breast
16	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:189901000-189919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
22	chr2:189902400-189921600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:189902600-189937000	Strong transcription	NH-A	brain
24	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:189904400-189921200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:189904400-189926800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:189906000-189918000	Weak transcription	Brain Angular Gyrus	brain
31	chr2:189906400-189925400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:189907800-189929200	Weak transcription	Liver	Liver
33	chr2:189908000-189927800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:189909000-189921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:189909200-189936200	Weak transcription	Small Intestine	intestine
36	chr2:189909800-189919000	Strong transcription	NHDF-Ad	bronchial
37	chr2:189909800-189934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:189911400-189919600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:189911400-189926600	Strong transcription	HSMMtube	muscle
40	chr2:189911800-189923400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:189912000-189919000	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:189912000-189921600	Strong transcription	NHLF	lung
43	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:189912800-189931200	Weak transcription	Colonic Mucosa	Colon
45	chr2:189913600-189919000	Strong transcription	Fetal Lung	lung
46	chr2:189914000-189919000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:189914000-189932800	Weak transcription	Fetal Kidney	kidney
48	chr2:189914200-189918000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:189914400-189918200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:189914400-189937000	Strong transcription	Adipose Nuclei	Adipose

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