Variant report

Variant	nsv961525
Chromosome Location	chr2:167467300-167471738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556605538	chr2:167467345-167467346	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs531475212	chr2:167467350-167467351	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs551279174	chr2:167467368-167467369	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs571338431	chr2:167467379-167467380	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs534021790	chr2:167467444-167467445	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374453646	chr2:167467470-167467471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576448173	chr2:167467472-167467473	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369402762	chr2:167467476-167467477	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553576084	chr2:167467489-167467490	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567313683	chr2:167467502-167467503	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34484001	chr2:167467513-167467514	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556165927	chr2:167467527-167467528	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576119996	chr2:167467558-167467559	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545699296	chr2:167467559-167467560	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs137897010	chr2:167467562-167467563	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142372506	chr2:167467567-167467568	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369119978	chr2:167467570-167467571	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187244076	chr2:167467585-167467586	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561334076	chr2:167467589-167467590	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs6704929	chr2:167467591-167467592	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530163171	chr2:167467648-167467649	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543531983	chr2:167467665-167467666	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145928096	chr2:167467668-167467669	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377011933	chr2:167467669-167467670	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370968213	chr2:167467681-167467682	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139974507	chr2:167467683-167467684	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199793790	chr2:167467704-167467705	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571557566	chr2:167467706-167467707	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191974109	chr2:167467715-167467716	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547522443	chr2:167467743-167467744	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111803405	chr2:167467762-167467763	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13029609	chr2:167467763-167467764	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183495309	chr2:167467769-167467770	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188335723	chr2:167467784-167467785	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538681460	chr2:167467798-167467799	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558979899	chr2:167467806-167467807	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192282755	chr2:167467814-167467815	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535011543	chr2:167467818-167467819	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555119560	chr2:167467820-167467821	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148451501	chr2:167467826-167467827	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561131111	chr2:167467831-167467832	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533012076	chr2:167467832-167467833	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543497409	chr2:167467837-167467838	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142365777	chr2:167467838-167467839	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182446831	chr2:167467851-167467852	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187142926	chr2:167467855-167467856	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112157971	chr2:167467862-167467863	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369118571	chr2:167467870-167467871	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527553487	chr2:167467874-167467875	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112365390	chr2:167467885-167467886	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Epilepsy	21204806	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167464800-167467600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:167465200-167467400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:167465400-167467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:167465600-167469800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:167465600-167470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:167465800-167470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:167466000-167467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:167466200-167467400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:167466200-167467600	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:167466200-167468000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:167466400-167467400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:167466400-167467600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:167466400-167468000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr2:167466600-167467400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:167466600-167467400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:167466600-167467400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:167466600-167467400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:167466600-167467400	Enhancers	Brain Germinal Matrix	brain
19	chr2:167466600-167467400	Active TSS	Colon Smooth Muscle	Colon
20	chr2:167466600-167467400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr2:167466600-167467400	Active TSS	Osteobl	bone
22	chr2:167466600-167467600	Active TSS	Right Ventricle	heart
23	chr2:167466800-167467400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:167466800-167467400	Flanking Active TSS	Fetal Thymus	thymus
25	chr2:167466800-167467600	Active TSS	Thymus	Thymus
26	chr2:167467000-167467400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:167467000-167467400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:167467000-167467400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:167467000-167467400	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:167467000-167467400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:167467000-167467400	Active TSS	Adipose Nuclei	Adipose
32	chr2:167467000-167467400	Enhancers	Fetal Brain Male	brain
33	chr2:167467000-167467400	Flanking Active TSS	Fetal Brain Female	brain
34	chr2:167467000-167467400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr2:167467000-167467400	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:167467000-167467800	Active TSS	Fetal Kidney	kidney
37	chr2:167467000-167468000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:167467000-167470400	Weak transcription	Fetal Heart	heart
39	chr2:167467200-167467400	Active TSS	Primary B cells from cord blood	blood
40	chr2:167467200-167467400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr2:167467200-167467400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:167467200-167467400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:167467200-167467400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:167467200-167467400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr2:167467200-167467400	Enhancers	Psoas Muscle	Psoas
46	chr2:167467200-167467600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:167467200-167467600	Active TSS	Primary T cells from cord blood	blood
48	chr2:167467200-167467600	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr2:167467200-167470600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:167467400-167467600	Flanking Active TSS	Primary B cells from cord blood	blood

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