Variant report

Variant	esv3394121
Chromosome Location	chr2:179491221-179491743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179356121..179358654-chr2:179491189..179492895,2	K562	blood:
2	chr2:179490234..179492399-chr2:179495010..179497481,2	K562	blood:
3	chr2:179489348..179492124-chr2:179493516..179496969,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16866420	chr2:179491235-179491236	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148273037	chr2:179491254-179491255	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73038310	chr2:179491257-179491258	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114233724	chr2:179491270-179491271	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73973132	chr2:179491278-179491279	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570869479	chr2:179491307-179491308	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs56352103	chr2:179491330-179491331	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs55639922	chr2:179491331-179491332	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575225181	chr2:179491337-179491338	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147298895	chr2:179491405-179491406	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374140197	chr2:179491408-179491409	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554952102	chr2:179491428-179491429	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575004412	chr2:179491452-179491453	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540939476	chr2:179491467-179491468	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544348023	chr2:179491492-179491493	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533432035	chr2:179491562-179491563	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368052682	chr2:179491567-179491568	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192709237	chr2:179491570-179491571	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577543038	chr2:179491609-179491610	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184119501	chr2:179491707-179491708	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140875948	chr2:179491712-179491713	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:179408000-179503000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179440600-179494000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:179440600-179505200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:179441400-179498800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:179441600-179495000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:179442800-179492000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:179442800-179493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:179463800-179492000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:179464600-179497400	Weak transcription	GM12878-XiMat	blood
12	chr2:179472400-179502600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:179472800-179498600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:179473200-179498000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:179473800-179491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:179477000-179502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:179477200-179492400	Weak transcription	HSMM	muscle
18	chr2:179479000-179497400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:179479000-179500600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
21	chr2:179479800-179512000	Weak transcription	Lung	lung
22	chr2:179480400-179500600	Weak transcription	Ovary	ovary
23	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:179482800-179500600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:179483200-179494200	Weak transcription	Pancreas	Pancrea
26	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:179483400-179495200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:179483600-179496800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:179485400-179496800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:179486400-179495200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:179486400-179495200	Weak transcription	Right Ventricle	heart
32	chr2:179486600-179497200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:179486800-179498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:179488400-179492600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:179488400-179492800	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:179489400-179493200	Weak transcription	Primary B cells from cord blood	blood
37	chr2:179489400-179494000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:179489600-179492800	Weak transcription	Primary T cells from cord blood	blood
39	chr2:179489600-179493400	Weak transcription	Left Ventricle	heart
40	chr2:179489600-179494000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:179489600-179497000	Weak transcription	Psoas Muscle	Psoas
42	chr2:179490000-179492600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:179490200-179492600	Weak transcription	HSMMtube	muscle
44	chr2:179490400-179492800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:179490800-179493000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:179491000-179491600	Active TSS	Fetal Muscle Trunk	muscle
47	chr2:179491000-179494400	Active TSS	Fetal Muscle Leg	muscle
48	chr2:179491000-179494400	Active TSS	Right Atrium	heart
49	chr2:179491200-179491400	Flanking Active TSS	Fetal Heart	heart
50	chr2:179491400-179492600	Active TSS	Fetal Heart	heart

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