Variant report

Variant	nsv961870
Chromosome Location	chr2:112696364-112698410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577557408	chr2:112696379-112696380	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75924842	chr2:112696403-112696404	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574751958	chr2:112696406-112696407	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138245041	chr2:112696429-112696430	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184001170	chr2:112696438-112696439	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532010000	chr2:112696443-112696444	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533698731	chr2:112696476-112696477	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552291093	chr2:112696491-112696492	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547523237	chr2:112696503-112696504	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116319147	chr2:112696516-112696517	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372163154	chr2:112696561-112696562	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187122907	chr2:112696583-112696584	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115196581	chr2:112696633-112696634	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568299217	chr2:112696675-112696676	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537374712	chr2:112696677-112696678	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573085010	chr2:112696679-112696680	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71414616	chr2:112696684-112696685	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541626695	chr2:112696695-112696696	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553439305	chr2:112696723-112696724	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573231505	chr2:112696750-112696751	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534835421	chr2:112696751-112696752	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576432778	chr2:112696754-112696755	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141838379	chr2:112696760-112696761	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543787375	chr2:112696769-112696770	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539476269	chr2:112696780-112696781	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191938723	chr2:112696810-112696811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576782885	chr2:112696836-112696837	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369599225	chr2:112696854-112696855	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548270123	chr2:112696855-112696856	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184472407	chr2:112696890-112696891	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559414191	chr2:112696934-112696935	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528208282	chr2:112696939-112696940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541500734	chr2:112697050-112697051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568153854	chr2:112697053-112697054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369006773	chr2:112697054-112697055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562493327	chr2:112697076-112697077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574492183	chr2:112697085-112697086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561990090	chr2:112697095-112697096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530998251	chr2:112697121-112697122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550869632	chr2:112697220-112697221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556503129	chr2:112697222-112697223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10198782	chr2:112697232-112697233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35265653	chr2:112697240-112697241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140770048	chr2:112697241-112697242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79516538	chr2:112697260-112697261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77038205	chr2:112697261-112697262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13430539	chr2:112697265-112697266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10209257	chr2:112697267-112697268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533388683	chr2:112697268-112697269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541890387	chr2:112697277-112697278	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112664600-112702200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112676400-112702200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:112677800-112697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:112678000-112705600	Weak transcription	Esophagus	oesophagus
5	chr2:112682400-112703200	Weak transcription	Placenta	Placenta
6	chr2:112683200-112703200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:112683400-112698600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:112684600-112703000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:112684800-112705200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:112685000-112702200	Weak transcription	Pancreas	Pancrea
11	chr2:112685600-112703200	Weak transcription	Right Ventricle	heart
12	chr2:112687000-112698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:112687000-112703600	Weak transcription	Fetal Kidney	kidney
14	chr2:112688400-112703000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:112688400-112703200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:112688600-112700200	Weak transcription	Lung	lung
17	chr2:112688600-112702600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:112688600-112703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:112688800-112697800	Weak transcription	Adipose Nuclei	Adipose
20	chr2:112688800-112698200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:112688800-112702200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:112688800-112703600	Weak transcription	Aorta	Aorta
23	chr2:112689000-112702400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:112689000-112703000	Weak transcription	Left Ventricle	heart
25	chr2:112689000-112703200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:112689000-112703200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:112689200-112734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:112689400-112702200	Weak transcription	Fetal Intestine Small	intestine
29	chr2:112689600-112703000	Weak transcription	Fetal Stomach	stomach
30	chr2:112690600-112702200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:112690800-112696600	Weak transcription	Small Intestine	intestine
32	chr2:112691000-112696400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:112691400-112697600	Weak transcription	Liver	Liver
34	chr2:112691400-112705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:112693000-112699400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:112693000-112703200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:112693200-112712600	Weak transcription	Spleen	Spleen
38	chr2:112694200-112697000	Strong transcription	HepG2	liver
39	chr2:112694200-112700400	Enhancers	HUVEC	blood vessel
40	chr2:112694400-112696600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:112694600-112702200	Weak transcription	Brain Angular Gyrus	brain
42	chr2:112694600-112703000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:112694800-112697600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:112694800-112702200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:112694800-112703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:112695000-112702800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:112695200-112699000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:112695400-112702200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:112696000-112696600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:112696000-112696600	Enhancers	Fetal Lung	lung

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