Variant report

Variant	esv3391801
Chromosome Location	chr1:210706410-210706849
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	chr1:210542669..210544192-chr1:210705476..210708034,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-5	chr1:210706781-210707062	NONHSAT009268

Extended variants
information (count: 16 )
Associated
traits (count: 89 )

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	rs542516341	chr1:210706438-210706439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565017679	chr1:210706458-210706459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561097152	chr1:210706511-210706512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368407723	chr1:210706518-210706519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371547240	chr1:210706529-210706530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142288526	chr1:210706531-210706532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77059558	chr1:210706532-210706533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61122816	chr1:210706533-210706534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572995769	chr1:210706547-210706548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58599805	chr1:210706573-210706574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564859411	chr1:210706597-210706598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188085253	chr1:210706598-210706599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547598494	chr1:210706601-210706602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67269543	chr1:210706694-210706695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11119529	chr1:210706807-210706808	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115831999	chr1:210706825-210706826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210700800-210708800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:210700800-210709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210703200-210708200	Weak transcription	HSMMtube	muscle
6	chr1:210704000-210709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:210704200-210708600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:210704200-210708800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:210704400-210708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:210704400-210708600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:210704600-210706600	Enhancers	Fetal Heart	heart
12	chr1:210705000-210708600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:210706600-210708800	Weak transcription	Fetal Heart	heart

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