Variant report

Variant	esv3430731
Chromosome Location	chr2:101226454-101226846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101225173..101228085-chr2:101618841..101622478,3	MCF-7	breast:
2	chr2:101226411..101227351-chr2:101600953..101601880,6	MCF-7	breast:
3	chr2:101226497..101227338-chr2:101486931..101487568,2	MCF-7	breast:
4	chr2:101226818..101227419-chr2:101601237..101601950,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071082	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371250299	chr2:101226470-101226471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143899930	chr2:101226501-101226502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534346902	chr2:101226512-101226513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192653468	chr2:101226556-101226557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568743779	chr2:101226563-101226564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529514706	chr2:101226573-101226574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541008180	chr2:101226589-101226590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2971010	chr2:101226604-101226605	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35036372	chr2:101226737-101226738	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116806150	chr2:101226760-101226761	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566985656	chr2:101226768-101226769	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147246916	chr2:101226792-101226793	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563498615	chr2:101226813-101226814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375008871	chr2:101226827-101226828	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101210400-101231800	Weak transcription	Right Atrium	heart
2	chr2:101220400-101228800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:101221000-101227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:101221200-101226600	Weak transcription	HSMMtube	muscle
5	chr2:101221200-101227000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:101223400-101226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:101223400-101231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:101223400-101233600	Weak transcription	Gastric	stomach
9	chr2:101223800-101226600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:101223800-101226800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:101223800-101226800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:101223800-101226800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:101224000-101226800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:101226600-101226800	Enhancers	Osteobl	bone
15	chr2:101226600-101227000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:101226600-101227200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr2:101226600-101227400	Enhancers	HSMMtube	muscle
18	chr2:101226600-101227600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:101226600-101227600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:101226800-101227000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:101226800-101227200	Enhancers	Brain Substantia Nigra	brain
22	chr2:101226800-101227200	Enhancers	NHDF-Ad	bronchial
23	chr2:101226800-101227200	Enhancers	NHLF	lung
24	chr2:101226800-101227200	Flanking Active TSS	Osteobl	bone
25	chr2:101226800-101227600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:101226800-101227800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:101226800-101228000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:101226800-101228400	Enhancers	Fetal Muscle Trunk	muscle

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