Variant report

Variant	esv1009899
Chromosome Location	chr2:188284517-188286636
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	chr2:188286431..188288694-chr2:188289682..188292197,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530624416	chr2:188284623-188284624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535347701	chr2:188284690-188284691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570441971	chr2:188284741-188284742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528110562	chr2:188284756-188284757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35500208	chr2:188284803-188284804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186763193	chr2:188284809-188284810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78596607	chr2:188284824-188284825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535737704	chr2:188284828-188284829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529647946	chr2:188284864-188284865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555850972	chr2:188284906-188284907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557146072	chr2:188284928-188284929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138418958	chr2:188284963-188284964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188387275	chr2:188284969-188284970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574105827	chr2:188284994-188284995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199995995	chr2:188285043-188285044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572347850	chr2:188285049-188285050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557939263	chr2:188285110-188285111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376286484	chr2:188285127-188285128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540313082	chr2:188285184-188285185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80343171	chr2:188285193-188285194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574790792	chr2:188285203-188285204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539964449	chr2:188285236-188285237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542099314	chr2:188285280-188285281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557982272	chr2:188285381-188285382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181248047	chr2:188285382-188285383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376900044	chr2:188285423-188285424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7599181	chr2:188285448-188285449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140262354	chr2:188285455-188285456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564056425	chr2:188285572-188285573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3771074	chr2:188285710-188285711	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544054623	chr2:188285714-188285715	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546319733	chr2:188285741-188285742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568011513	chr2:188285751-188285752	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529548643	chr2:188285762-188285763	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550836944	chr2:188285804-188285805	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184958651	chr2:188285809-188285810	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539671146	chr2:188285860-188285861	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558325188	chr2:188285934-188285935	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373542810	chr2:188285945-188285946	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534255134	chr2:188285979-188285980	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376939455	chr2:188286032-188286033	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562248261	chr2:188286054-188286055	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555480444	chr2:188286149-188286150	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3771073	chr2:188286217-188286218	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542160564	chr2:188286247-188286248	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189616636	chr2:188286297-188286298	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575589759	chr2:188286309-188286310	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545727217	chr2:188286345-188286346	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564297612	chr2:188286366-188286367	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572861992	chr2:188286407-188286408	Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188269600-188309800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:188269800-188286200	Weak transcription	Left Ventricle	heart
3	chr2:188269800-188308400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:188270800-188286400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:188280600-188286200	Weak transcription	Psoas Muscle	Psoas
6	chr2:188280800-188286000	Weak transcription	Ovary	ovary
7	chr2:188282200-188285600	Weak transcription	HUVEC	blood vessel
8	chr2:188283000-188286200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:188283000-188286400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:188285600-188286200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:188285600-188286400	Genic enhancers	HUVEC	blood vessel
12	chr2:188286000-188286600	Enhancers	Ovary	ovary
13	chr2:188286200-188286600	Enhancers	Left Ventricle	heart
14	chr2:188286200-188286600	Enhancers	Psoas Muscle	Psoas
15	chr2:188286200-188286600	Enhancers	Right Atrium	heart
16	chr2:188286200-188287400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:188286200-188288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:188286400-188286600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:188286400-188286600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr2:188286400-188287800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:188286400-188288200	Enhancers	Adipose Nuclei	Adipose
22	chr2:188286600-188286800	Enhancers	Hela-S3	cervix
23	chr2:188286600-188286800	Flanking Active TSS	HUVEC	blood vessel
24	chr2:188286600-188286800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:188286600-188289600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:188286600-188304000	Weak transcription	Psoas Muscle	Psoas

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