Variant report

Variant	esv3368248
Chromosome Location	chr2:112008262-112009877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549850935	chr2:112008273-112008274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530152569	chr2:112008279-112008280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146150424	chr2:112008280-112008281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189742049	chr2:112008298-112008299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558561739	chr2:112008312-112008313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112712153	chr2:112008339-112008340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566999560	chr2:112008403-112008404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112229381	chr2:112008465-112008466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10181467	chr2:112008482-112008483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112209767	chr2:112008510-112008511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536802390	chr2:112008534-112008535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191399238	chr2:112008541-112008542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140559781	chr2:112008563-112008564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545820106	chr2:112008573-112008574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559305586	chr2:112008584-112008585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573241333	chr2:112008638-112008639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150002428	chr2:112008649-112008650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113838222	chr2:112008709-112008710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562198058	chr2:112008727-112008728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72837863	chr2:112008735-112008736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62160390	chr2:112008760-112008761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368894085	chr2:112008787-112008788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377009335	chr2:112008818-112008819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550862864	chr2:112008830-112008831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62160391	chr2:112008835-112008836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183583962	chr2:112008844-112008845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552238162	chr2:112008867-112008868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565673297	chr2:112008879-112008880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72837865	chr2:112008882-112008883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548471703	chr2:112008889-112008890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568226572	chr2:112008921-112008922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537270674	chr2:112008929-112008930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556853713	chr2:112008954-112008955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576957648	chr2:112008986-112008987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539537092	chr2:112009003-112009004	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189492439	chr2:112009004-112009005	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55742372	chr2:112009038-112009039	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140111396	chr2:112009045-112009046	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56084934	chr2:112009056-112009057	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56391254	chr2:112009060-112009061	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371236379	chr2:112009082-112009083	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34229247	chr2:112009084-112009085	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141429480	chr2:112009085-112009086	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76705147	chr2:112009097-112009098	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371116697	chr2:112009109-112009110	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72837867	chr2:112009110-112009111	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373973366	chr2:112009111-112009112	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368855658	chr2:112009123-112009124	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112780548	chr2:112009126-112009127	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111303065	chr2:112009133-112009134	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111977600-112011400	Weak transcription	A549	lung
2	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:111994000-112009600	Weak transcription	Left Ventricle	heart
4	chr2:111996400-112009000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:112004600-112009200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:112005200-112009000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:112005600-112008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:112005600-112009000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:112005600-112015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:112005800-112009000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:112006000-112008600	Weak transcription	NHLF	lung
12	chr2:112006200-112009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:112006200-112009400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:112006200-112020200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:112006400-112009000	Weak transcription	NHEK	skin
16	chr2:112006400-112011600	Weak transcription	NH-A	brain
17	chr2:112006600-112008400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:112006600-112009000	Weak transcription	Dnd41	blood
19	chr2:112006600-112009000	Weak transcription	K562	blood
20	chr2:112006800-112011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:112007200-112008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:112007600-112008600	Enhancers	Ovary	ovary
23	chr2:112007800-112008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:112007800-112008800	Enhancers	HepG2	liver
25	chr2:112007800-112009400	Enhancers	HSMMtube	muscle
26	chr2:112008000-112008800	Enhancers	Osteobl	bone
27	chr2:112008000-112009000	Enhancers	HSMM	muscle
28	chr2:112008200-112008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:112008200-112008400	Enhancers	Aorta	Aorta
30	chr2:112008200-112008400	Enhancers	Lung	lung
31	chr2:112008200-112008400	Enhancers	Pancreas	Pancrea
32	chr2:112008200-112008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:112008200-112008600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:112008200-112008800	Enhancers	NHDF-Ad	bronchial
35	chr2:112008400-112009000	Weak transcription	Lung	lung
36	chr2:112008400-112012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:112008600-112008800	Enhancers	NHLF	lung
38	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:112009000-112009200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:112009000-112009200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr2:112009000-112009200	Enhancers	Lung	lung
42	chr2:112009000-112009400	Weak transcription	HSMM	muscle
43	chr2:112009000-112009600	ZNF genes & repeats	Dnd41	blood
44	chr2:112009000-112010000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:112009200-112009400	Enhancers	Fetal Muscle Leg	muscle
46	chr2:112009200-112022600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:112009400-112010000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:112009400-112010200	Enhancers	HSMM	muscle
49	chr2:112009400-112010200	Flanking Active TSS	HSMMtube	muscle
50	chr2:112009600-112009800	Enhancers	Left Ventricle	heart

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