Variant report

Variant	esv3514323
Chromosome Location	chr2:187436995-187437426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
2	chr2:187432930..187434820-chr2:187437011..187439461,2	MCF-7	breast:
3	chr2:187435550..187437375-chr2:187442844..187445371,2	K562	blood:
4	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
5	chr2:187370870..187374778-chr2:187436583..187438876,3	MCF-7	breast:
6	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065548	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374007100	chr2:187437008-187437009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574497908	chr2:187437010-187437011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377650174	chr2:187437015-187437016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6738084	chr2:187437033-187437034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575950879	chr2:187437073-187437074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563851782	chr2:187437088-187437089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114578707	chr2:187437102-187437103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148026861	chr2:187437112-187437113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74268934	chr2:187437114-187437115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376010344	chr2:187437115-187437116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186136301	chr2:187437285-187437286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190935492	chr2:187437308-187437309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184074246	chr2:187437320-187437321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199563313	chr2:187437322-187437323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374955511	chr2:187437362-187437363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34231867	chr2:187437415-187437416	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187426600-187441200	Weak transcription	Aorta	Aorta
2	chr2:187434800-187438200	Enhancers	NHEK	skin
3	chr2:187435200-187439800	Weak transcription	HSMMtube	muscle
4	chr2:187435400-187438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:187435400-187439400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:187435400-187439600	Weak transcription	HSMM	muscle
7	chr2:187435600-187437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:187435600-187439800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:187435600-187441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:187435600-187453800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:187435800-187437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:187435800-187437600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:187435800-187439200	Weak transcription	NH-A	brain
14	chr2:187435800-187439400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:187435800-187439400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:187435800-187439400	Weak transcription	HUVEC	blood vessel
17	chr2:187435800-187439600	Weak transcription	K562	blood
18	chr2:187435800-187439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:187435800-187439800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:187435800-187440400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:187435800-187440600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:187436000-187437400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:187436000-187437400	Weak transcription	HMEC	breast
24	chr2:187436000-187439400	Weak transcription	Osteobl	bone
25	chr2:187436000-187439600	Weak transcription	HepG2	liver
26	chr2:187436000-187439800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:187436000-187439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:187436200-187437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:187436200-187437400	Enhancers	A549	lung
30	chr2:187436200-187437600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:187436400-187439800	Weak transcription	Hela-S3	cervix
32	chr2:187436800-187437200	Weak transcription	Stomach Mucosa	stomach
33	chr2:187436800-187438000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:187436800-187438200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:187437200-187438200	Enhancers	Stomach Mucosa	stomach
36	chr2:187437400-187437600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:187437400-187437800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:187437400-187438200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:187437400-187438200	Flanking Active TSS	A549	lung
40	chr2:187437400-187438200	Enhancers	HMEC	breast

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