Variant report

Variant	esv3377993
Chromosome Location	chr2:178286406-178289204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178281186..178282700-chr2:178284322..178286913,2	K562	blood:
2	chr2:178256529..178258320-chr2:178284529..178287506,2	K562	blood:

Variant related genes	Relation type
ENSG00000018510	chromatin interactions
ENSG00000116044	chromatin interactions
ENSG00000213963	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568889773	chr2:178286407-178286408	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs191543585	chr2:178286461-178286462	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9917193	chr2:178286462-178286463	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs9917333	chr2:178286471-178286472	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs142832773	chr2:178286483-178286484	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532951710	chr2:178286493-178286494	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs9288001	chr2:178286549-178286550	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576744961	chr2:178286565-178286566	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545764546	chr2:178286580-178286581	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs556284932	chr2:178286588-178286589	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576440240	chr2:178286603-178286604	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146085384	chr2:178286651-178286652	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559779371	chr2:178286677-178286678	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs10497507	chr2:178286706-178286707	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554938040	chr2:178286730-178286731	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs553936839	chr2:178286745-178286746	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs199959421	chr2:178286748-178286749	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111938417	chr2:178286813-178286814	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548582286	chr2:178286865-178286866	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs527857329	chr2:178286869-178286870	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs369763383	chr2:178286871-178286872	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541676470	chr2:178286886-178286887	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568415539	chr2:178286892-178286893	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564734017	chr2:178286915-178286916	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs16865271	chr2:178286946-178286947	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552164401	chr2:178286973-178286974	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs59111239	chr2:178286998-178286999	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs551283715	chr2:178287008-178287009	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs374751013	chr2:178287012-178287013	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs568182045	chr2:178287127-178287128	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs145315859	chr2:178287156-178287157	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183690135	chr2:178287219-178287220	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs140042011	chr2:178287223-178287224	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs367921151	chr2:178287231-178287232	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs539356407	chr2:178287247-178287248	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs142268461	chr2:178287273-178287274	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs150798695	chr2:178287275-178287276	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs535868608	chr2:178287311-178287312	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs57819557	chr2:178287363-178287364	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572586200	chr2:178287402-178287403	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541608369	chr2:178287425-178287426	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs139178167	chr2:178287453-178287454	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34252452	chr2:178287494-178287495	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs578235557	chr2:178287587-178287588	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543759622	chr2:178287619-178287620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560495059	chr2:178287631-178287632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372544357	chr2:178287637-178287638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112317496	chr2:178287638-178287639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374668789	chr2:178287639-178287640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548184018	chr2:178287641-178287642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
2	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:178265600-178287000	Weak transcription	K562	blood
5	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:178272800-178295200	Weak transcription	Left Ventricle	heart
8	chr2:178273000-178288800	Weak transcription	GM12878-XiMat	blood
9	chr2:178273400-178286600	Weak transcription	HSMMtube	muscle
10	chr2:178273400-178288600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:178274600-178291800	Weak transcription	Primary B cells from cord blood	blood
12	chr2:178276400-178291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:178276800-178289800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:178276800-178294400	Weak transcription	Psoas Muscle	Psoas
15	chr2:178277400-178291800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:178279600-178294400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:178280200-178291600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:178280400-178296000	Weak transcription	Small Intestine	intestine
19	chr2:178280800-178294400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:178281200-178289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:178281200-178291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:178281200-178292200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:178281800-178291800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:178282800-178287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:178283000-178294600	Weak transcription	Fetal Kidney	kidney
26	chr2:178283200-178286600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:178283800-178294200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:178283800-178295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:178284000-178294200	Weak transcription	NHLF	lung
30	chr2:178284200-178286600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:178284200-178291600	Weak transcription	Fetal Lung	lung
32	chr2:178284400-178286600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:178284400-178286600	Weak transcription	NH-A	brain
34	chr2:178284400-178286800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:178284400-178289400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:178284400-178291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:178284400-178292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:178284400-178292000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:178284400-178294000	Weak transcription	Fetal Thymus	thymus
40	chr2:178284600-178286800	Weak transcription	Osteobl	bone
41	chr2:178284600-178294000	Weak transcription	HSMM	muscle
42	chr2:178284600-178294400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:178284600-178295800	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:178284800-178291000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:178284800-178294200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:178284800-178294400	Weak transcription	Liver	Liver
47	chr2:178285000-178286800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:178285000-178287000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:178285000-178287600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:178285000-178289800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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