Variant report

Variant	esv2763488
Chromosome Location	chr2:168163136-168181440
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	chr2:168158037..168159768-chr2:168162619..168165474,2	K562	blood:

Extended variants
information (count: 584 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146527502	chr2:168163141-168163142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553654362	chr2:168163211-168163212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573625597	chr2:168163231-168163232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541798338	chr2:168163331-168163332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569029380	chr2:168163354-168163355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545679408	chr2:168163411-168163412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10930264	chr2:168163566-168163567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10930265	chr2:168163574-168163575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563856272	chr2:168163633-168163634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558666176	chr2:168163638-168163639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532925295	chr2:168163645-168163646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540043328	chr2:168163709-168163710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184386580	chr2:168163713-168163714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186855740	chr2:168163715-168163716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1916743	chr2:168163730-168163731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191694452	chr2:168163799-168163800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78095392	chr2:168163948-168163949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535242796	chr2:168163956-168163957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184457309	chr2:168163989-168163990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1916742	chr2:168163992-168163993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189324819	chr2:168164032-168164033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540034566	chr2:168164066-168164067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182309487	chr2:168164121-168164122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141112748	chr2:168164145-168164146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535799600	chr2:168164227-168164228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556044293	chr2:168164246-168164247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185657744	chr2:168164284-168164285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189542380	chr2:168164327-168164328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181475752	chr2:168164448-168164449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147903258	chr2:168164480-168164481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201633315	chr2:168164483-168164484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563804520	chr2:168164643-168164644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557387441	chr2:168164646-168164647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186112496	chr2:168164657-168164658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539400618	chr2:168164749-168164750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190243382	chr2:168164775-168164776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540029456	chr2:168164856-168164857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559949745	chr2:168164864-168164865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529166464	chr2:168164873-168164874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143154446	chr2:168164882-168164883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181440114	chr2:168164906-168164907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148249724	chr2:168164917-168164918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551041787	chr2:168164922-168164923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570948697	chr2:168164951-168164952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141234153	chr2:168164973-168164974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186024857	chr2:168165003-168165004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567040388	chr2:168165031-168165032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536060327	chr2:168165041-168165042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34024431	chr2:168165068-168165069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549373819	chr2:168165114-168165115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168151400-168163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168152000-168174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168152600-168167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:168154400-168173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:168154800-168165800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:168160200-168164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:168160400-168165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:168163000-168163400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:168163400-168165600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:168164800-168167400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:168165000-168167600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:168165600-168167800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:168165800-168166000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:168166000-168166400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:168166400-168167000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:168166400-168167800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:168166600-168167000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:168166800-168167200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:168167000-168167800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:168167000-168175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:168167400-168174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:168167600-168173800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:168167800-168173000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:168167800-168175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:168173000-168173200	Enhancers	Left Ventricle	heart
26	chr2:168173000-168173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:168173000-168173400	Enhancers	Brain Germinal Matrix	brain
28	chr2:168173000-168173800	Enhancers	Right Ventricle	heart
29	chr2:168173000-168174000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:168173400-168173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:168173400-168173800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:168173400-168174000	Enhancers	Brain Anterior Caudate	brain
33	chr2:168173600-168173800	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:168173600-168174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:168173600-168174000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:168173600-168174000	Enhancers	Brain Germinal Matrix	brain
37	chr2:168173800-168174000	Enhancers	Left Ventricle	heart
38	chr2:168173800-168174400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr2:168173800-168174800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:168174000-168174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:168174000-168174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:168174000-168175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:168174000-168175800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr2:168174000-168176000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr2:168174200-168179400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:168174400-168175200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:168174400-168176000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:168174800-168175200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:168174800-168175800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:168174800-168176200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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