Variant report

Variant	esv3394111
Chromosome Location	chr2:187405517-187405827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187398977..187400770-chr2:187403878..187405986,2	K562	blood:
2	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
3	chr2:187398946..187400770-chr2:187402643..187405986,3	K562	blood:
4	chr2:187362564..187365025-chr2:187405176..187407721,2	K562	blood:
5	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

Variant related genes	Relation type
ENSG00000138448	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73040060	chr2:187405524-187405525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4667105	chr2:187405576-187405577	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566008120	chr2:187405582-187405583	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372277627	chr2:187405583-187405584	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146013932	chr2:187405592-187405593	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112938105	chr2:187405632-187405633	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73040062	chr2:187405640-187405641	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142210641	chr2:187405676-187405677	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570200029	chr2:187405678-187405679	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527312563	chr2:187405737-187405738	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530713438	chr2:187405740-187405741	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545434145	chr2:187405804-187405805	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563699132	chr2:187405813-187405814	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:187381800-187406600	Weak transcription	NHEK	skin
5	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:187399400-187408200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:187404200-187405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:187404200-187406400	Weak transcription	HUVEC	blood vessel
9	chr2:187405000-187405600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:187405200-187405600	Enhancers	NHDF-Ad	bronchial
11	chr2:187405200-187406000	Enhancers	HepG2	liver
12	chr2:187405200-187406400	Enhancers	HSMM	muscle
13	chr2:187405200-187406800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:187405200-187407000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:187405200-187407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:187405200-187407200	Enhancers	A549	lung
17	chr2:187405200-187407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:187405400-187406200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:187405400-187406400	Enhancers	HSMMtube	muscle
21	chr2:187405400-187406800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:187405400-187407000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:187405400-187407000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:187405600-187406000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:187405600-187406000	Active TSS	NHDF-Ad	bronchial
26	chr2:187405600-187406600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:187405600-187407000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:187405600-187407000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:187405600-187407000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:187405600-187407000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:187405600-187407000	Enhancers	Osteobl	bone
32	chr2:187405600-187408200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:187405800-187406000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:187405800-187406000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:187405800-187406400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:187405800-187407000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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