Variant report

Variant	esv3359165
Chromosome Location	chr2:179306287-179308099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179300899..179302937-chr2:179304011..179306513,2	MCF-7	breast:
2	chr2:179303833..179306841-chr2:179307173..179311625,3	MCF-7	breast:
3	chr2:179305258..179308084-chr2:179346457..179348096,2	K562	blood:
4	chr2:179303928..179307176-chr2:179308029..179310262,3	K562	blood:

Variant related genes	Relation type
ENSG00000180228	chromatin interactions
ENSG00000116095	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73973115	chr2:179306317-179306318	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550449841	chr2:179306346-179306347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373237495	chr2:179306350-179306351	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs61746229	chr2:179306397-179306398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201959988	chr2:179306420-179306421	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199996045	chr2:179306442-179306443	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186640338	chr2:179306454-179306455	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529529171	chr2:179306457-179306458	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548281768	chr2:179306496-179306497	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142834816	chr2:179306562-179306563	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533911732	chr2:179306602-179306603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541455452	chr2:179306614-179306615	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373213686	chr2:179306615-179306616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62176108	chr2:179306636-179306637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192721488	chr2:179306637-179306638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533027952	chr2:179306693-179306694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368182063	chr2:179306704-179306705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570901609	chr2:179306715-179306716	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs578212103	chr2:179306740-179306741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200873103	chr2:179306760-179306761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556431579	chr2:179306771-179306772	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534164022	chr2:179306779-179306780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576128200	chr2:179306801-179306802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554853918	chr2:179306821-179306822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150626686	chr2:179306853-179306854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554119090	chr2:179306932-179306933	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574121549	chr2:179306946-179306947	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368384397	chr2:179306959-179306960	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555176084	chr2:179306974-179306975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540073546	chr2:179306990-179306991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572197867	chr2:179306991-179306992	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114366961	chr2:179307004-179307005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564273987	chr2:179307144-179307145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs13427914	chr2:179307201-179307202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77696539	chr2:179307247-179307248	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372540438	chr2:179307284-179307285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149760760	chr2:179307297-179307298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545211579	chr2:179307304-179307305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529644005	chr2:179307322-179307323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543230788	chr2:179307374-179307375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185456719	chr2:179307434-179307435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527379880	chr2:179307441-179307442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547473179	chr2:179307477-179307478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543188240	chr2:179307478-179307479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570314107	chr2:179307521-179307522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532963674	chr2:179307531-179307532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113309240	chr2:179307565-179307566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116582767	chr2:179307659-179307660	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190708493	chr2:179307691-179307692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145627874	chr2:179307760-179307761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute myeloid leukemia	20729466	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
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:179290800-179312600	Strong transcription	Dnd41	blood
7	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
17	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:179291400-179313400	Strong transcription	HSMM	muscle
22	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:179291600-179312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
33	chr2:179293200-179312600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:179293600-179313000	Strong transcription	Liver	Liver
35	chr2:179293800-179310200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
37	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
38	chr2:179294000-179313000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:179295400-179311000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:179295400-179311600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:179295400-179312800	Strong transcription	HepG2	liver
43	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
44	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:179297000-179313200	Weak transcription	Right Atrium	heart
46	chr2:179298400-179310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:179299600-179310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
50	chr2:179299800-179308400	Weak transcription	Colonic Mucosa	Colon

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