Variant report

Variant	esv3355447
Chromosome Location	chr2:211226495-211252680
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	chr2:211227904..211228774-chr2:211263806..211264757,2	MCF-7	breast:

Extended variants
information (count: 786 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:786 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549885386	chr2:211226497-211226498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113533147	chr2:211226498-211226499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566875231	chr2:211226530-211226531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371425126	chr2:211226558-211226559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539309047	chr2:211226630-211226631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75422251	chr2:211226656-211226657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76541172	chr2:211226657-211226658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574907602	chr2:211226699-211226700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151215257	chr2:211226802-211226803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73002547	chr2:211226859-211226860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575731427	chr2:211226934-211226935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544815465	chr2:211226938-211226939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73067648	chr2:211226946-211226947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142808472	chr2:211226974-211226975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371434145	chr2:211227018-211227019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371720957	chr2:211227023-211227024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62202060	chr2:211227038-211227039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559674675	chr2:211227084-211227085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12471041	chr2:211227107-211227108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545659956	chr2:211227113-211227114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527257511	chr2:211227122-211227123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62202061	chr2:211227158-211227159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531383288	chr2:211227197-211227198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111845648	chr2:211227243-211227244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548412325	chr2:211227245-211227246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561742230	chr2:211227250-211227251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528023718	chr2:211227270-211227271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529843657	chr2:211227284-211227285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146141671	chr2:211227289-211227290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552470219	chr2:211227325-211227326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181834311	chr2:211227328-211227329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186157415	chr2:211227356-211227357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369940978	chr2:211227377-211227378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199840370	chr2:211227385-211227386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539067986	chr2:211227388-211227389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77719810	chr2:211227398-211227399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201760837	chr2:211227399-211227400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552880881	chr2:211227408-211227409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62202062	chr2:211227421-211227422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569578395	chr2:211227451-211227452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57381962	chr2:211227463-211227464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35988211	chr2:211227466-211227467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555107398	chr2:211227473-211227474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571057259	chr2:211227481-211227482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190135413	chr2:211227505-211227506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533616682	chr2:211227526-211227527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142112036	chr2:211227581-211227582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181756589	chr2:211227604-211227605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116138515	chr2:211227605-211227606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144793444	chr2:211227624-211227625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211223000-211242800	Weak transcription	Psoas Muscle	Psoas
2	chr2:211225400-211227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:211226000-211228200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:211226400-211228600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:211227800-211228000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:211228000-211228800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:211228000-211229400	Enhancers	HepG2	liver
8	chr2:211228200-211228400	Enhancers	Placenta	Placenta
9	chr2:211228200-211228800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:211228200-211229000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:211228400-211228600	Bivalent Enhancer	Placenta	Placenta
12	chr2:211228600-211229000	Enhancers	Brain Angular Gyrus	brain
13	chr2:211228600-211229000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:211228600-211230400	Enhancers	Placenta	Placenta
15	chr2:211228800-211229200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:211228800-211229200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:211228800-211229200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:211228800-211231000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:211229000-211230800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:211229000-211231400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:211230400-211234800	Weak transcription	Placenta	Placenta
22	chr2:211230800-211232000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:211230800-211232200	Enhancers	HSMMtube	muscle
24	chr2:211231400-211231800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:211231400-211231800	Enhancers	Fetal Muscle Leg	muscle
26	chr2:211231400-211232000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:211231800-211235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:211232000-211235400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:211232200-211235600	Weak transcription	HSMMtube	muscle
30	chr2:211234800-211235600	Enhancers	Placenta	Placenta
31	chr2:211235000-211235200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:211235000-211235200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:211235200-211235600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:211235400-211235600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:211235400-211235800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:211235600-211236800	Enhancers	HSMMtube	muscle
37	chr2:211235600-211242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:211235800-211241000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:211236800-211237600	Weak transcription	HSMMtube	muscle
40	chr2:211237600-211238000	Enhancers	HSMMtube	muscle
41	chr2:211238000-211241000	Weak transcription	HSMMtube	muscle
42	chr2:211241000-211241200	Enhancers	HSMMtube	muscle
43	chr2:211241000-211242000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:211241000-211242000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:211241200-211241600	Weak transcription	HSMMtube	muscle
46	chr2:211241600-211242200	Enhancers	HSMMtube	muscle
47	chr2:211242600-211243000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:211242800-211243000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:211242800-211243000	Enhancers	Psoas Muscle	Psoas
50	chr2:211243000-211244000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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