Variant report

Variant	esv3445589
Chromosome Location	chr1:210557577-210557976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210557280..210560870-chr1:210565323..210568970,3	MCF-7	breast:
2	chr1:210550122..210554367-chr1:210555411..210560476,4	K562	blood:
3	chr1:210557629..210560572-chr1:210562217..210564495,2	MCF-7	breast:
4	chr1:210550399..210552265-chr1:210555579..210558136,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192028878	chr1:210557579-210557580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556686303	chr1:210557581-210557582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577955045	chr1:210557594-210557595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560663965	chr1:210557596-210557597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140509465	chr1:210557604-210557605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113739597	chr1:210557605-210557606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575095194	chr1:210557624-210557625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529470227	chr1:210557630-210557631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12143617	chr1:210557637-210557638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367550509	chr1:210557674-210557675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184221907	chr1:210557706-210557707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147049966	chr1:210557723-210557724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3765870	chr1:210557779-210557780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142208007	chr1:210557812-210557813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575386704	chr1:210557850-210557851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561741638	chr1:210557857-210557858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145952855	chr1:210557888-210557889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569349144	chr1:210557892-210557893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3765869	chr1:210557911-210557912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
3	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
4	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:210548600-210566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210550200-210557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210551200-210566600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:210551400-210557600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:210552400-210557800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:210552600-210557600	Weak transcription	Osteobl	bone
13	chr1:210552600-210557800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:210552800-210557600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:210552800-210557800	Weak transcription	NHDF-Ad	bronchial
16	chr1:210553000-210557600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:210553000-210557600	Weak transcription	NHLF	lung
18	chr1:210553400-210557600	Weak transcription	HSMM	muscle
19	chr1:210556000-210557600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:210557000-210559400	Enhancers	HepG2	liver
21	chr1:210557200-210559000	Enhancers	NH-A	brain
22	chr1:210557400-210559200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:210557600-210558000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:210557600-210558200	Enhancers	Gastric	stomach
25	chr1:210557600-210558400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:210557600-210559000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:210557600-210559000	Enhancers	NHLF	lung
28	chr1:210557600-210559200	Enhancers	HSMM	muscle
29	chr1:210557600-210559400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:210557600-210559400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:210557600-210559400	Enhancers	Osteobl	bone
32	chr1:210557800-210558400	Enhancers	NHDF-Ad	bronchial
33	chr1:210557800-210558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:210557800-210559400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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