Variant report

Variant	esv3378539
Chromosome Location	chr2:187420257-187422305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187418262..187420744-chr2:187454965..187457537,2	MCF-7	breast:
2	chr2:187419131..187421753-chr2:187453589..187456403,3	MCF-7	breast:
3	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
4	chr2:187349398..187350973-chr2:187420308..187421923,2	K562	blood:
5	chr2:187420574..187422329-chr2:187424400..187426246,2	K562	blood:

Variant related genes	Relation type
ENSG00000065548	chromatin interactions
ENSG00000138448	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550852442	chr2:187420280-187420281	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145591959	chr2:187420290-187420291	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550909408	chr2:187420303-187420304	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189905579	chr2:187420305-187420306	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539891967	chr2:187420316-187420317	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs13402284	chr2:187420366-187420367	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569013741	chr2:187420398-187420399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs6755033	chr2:187420555-187420556	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148914596	chr2:187420602-187420603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552896318	chr2:187420683-187420684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554574397	chr2:187420708-187420709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370152337	chr2:187420717-187420718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572887923	chr2:187420743-187420744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183857982	chr2:187420751-187420752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373045881	chr2:187420772-187420773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538770294	chr2:187420786-187420787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62197707	chr2:187420857-187420858	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143544062	chr2:187420860-187420861	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533978357	chr2:187420898-187420899	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201044409	chr2:187420917-187420918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372979173	chr2:187420921-187420922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148041974	chr2:187420935-187420936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10654122	chr2:187420992-187420993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs60169194	chr2:187420993-187420994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142306033	chr2:187420995-187420996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397959858	chr2:187421005-187421006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6751906	chr2:187421006-187421007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6736771	chr2:187421010-187421011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6736777	chr2:187421030-187421031	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564156401	chr2:187421065-187421066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs57295641	chr2:187421068-187421069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201659802	chr2:187421071-187421072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544439405	chr2:187421097-187421098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541609418	chr2:187421125-187421126	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs80183739	chr2:187421128-187421129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550025090	chr2:187421139-187421140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188630424	chr2:187421181-187421182	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs180678229	chr2:187421189-187421190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185109040	chr2:187421193-187421194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191181430	chr2:187421197-187421198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs60484353	chr2:187421215-187421216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs59517984	chr2:187421219-187421220	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59958394	chr2:187421223-187421224	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71017327	chr2:187421227-187421228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs199851287	chr2:187421229-187421230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs59971709	chr2:187421237-187421238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562410884	chr2:187421252-187421253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529562183	chr2:187421272-187421273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550717951	chr2:187421342-187421343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569197166	chr2:187421363-187421364	Weak transcription	Chromatin interactive region	2 gene(s)	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
Intellectual disability	22102821	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187414400-187426400	Weak transcription	Aorta	Aorta
2	chr2:187416800-187423400	Weak transcription	NHDF-Ad	bronchial
3	chr2:187418800-187420400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:187419000-187420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:187419000-187420800	Enhancers	NH-A	brain
6	chr2:187419000-187420800	Enhancers	Osteobl	bone
7	chr2:187419400-187420400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:187419600-187420400	Enhancers	K562	blood
9	chr2:187419600-187420600	Enhancers	HUVEC	blood vessel
10	chr2:187419600-187420800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:187419800-187420400	Flanking Active TSS	A549	lung
12	chr2:187419800-187420600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:187420000-187423200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:187420000-187426000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:187420200-187420800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:187420200-187423200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:187420200-187423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:187420200-187434800	Weak transcription	NHEK	skin
19	chr2:187420400-187420800	Enhancers	A549	lung
20	chr2:187420400-187423200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:187420600-187421800	Weak transcription	HUVEC	blood vessel
22	chr2:187420800-187423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:187420800-187423000	Weak transcription	A549	lung
24	chr2:187420800-187423200	Weak transcription	Osteobl	bone
25	chr2:187420800-187426200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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