Variant report

Variant	esv3458515
Chromosome Location	chr2:153205202-153205762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534005291	chr2:153205231-153205232	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs531656498	chr2:153205259-153205260	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs111831209	chr2:153205365-153205366	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs549880535	chr2:153205372-153205373	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs56910891	chr2:153205393-153205394	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs13024308	chr2:153205396-153205397	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs532150419	chr2:153205410-153205411	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539527997	chr2:153205473-153205474	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555841150	chr2:153205484-153205485	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13024504	chr2:153205493-153205494	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542149639	chr2:153205577-153205578	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562078189	chr2:153205628-153205629	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572286294	chr2:153205638-153205639	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191567944	chr2:153205651-153205652	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148156592	chr2:153205710-153205711	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201832439	chr2:153205723-153205724	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13024533	chr2:153205734-153205735	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550294386	chr2:153205747-153205748	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
epilepsy	18472482	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
2	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
3	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
4	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
5	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153194600-153206400	Weak transcription	Lung	lung
8	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:153194600-153214600	Weak transcription	Gastric	stomach
12	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:153196600-153211800	Weak transcription	Small Intestine	intestine
14	chr2:153197000-153207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153198000-153205800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:153198000-153206200	Weak transcription	Fetal Brain Male	brain
17	chr2:153198000-153206200	Genic enhancers	HepG2	liver
18	chr2:153198000-153207400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
21	chr2:153199400-153212200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:153199800-153211800	Weak transcription	Fetal Kidney	kidney
23	chr2:153200400-153211800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:153200600-153210400	Weak transcription	Ovary	ovary
26	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:153200800-153209200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:153200800-153210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:153200800-153210400	Weak transcription	NHDF-Ad	bronchial
30	chr2:153200800-153210600	Weak transcription	Psoas Muscle	Psoas
31	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
32	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
34	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:153201000-153205800	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:153201400-153206200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:153201600-153208400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
39	chr2:153202000-153206400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:153202200-153206200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:153202400-153211000	Weak transcription	NHEK	skin
42	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
43	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:153203000-153206800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
46	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:153203200-153205400	Enhancers	HMEC	breast
48	chr2:153203200-153206600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153203200-153207200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:153203400-153205800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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