Variant report

Variant	esv1812485
Chromosome Location	chr1:210712495-210724779
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	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:

Extended variants
information (count: 548 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10863842	chr1:210712495-210712496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568457598	chr1:210712550-210712551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536141018	chr1:210712561-210712562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10779537	chr1:210712574-210712575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61828124	chr1:210712579-210712580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377158339	chr1:210712585-210712586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556812550	chr1:210712590-210712591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566668409	chr1:210712591-210712592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547281671	chr1:210712597-210712598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568780908	chr1:210712604-210712605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558792500	chr1:210712630-210712631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576962517	chr1:210712640-210712641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72749367	chr1:210712642-210712643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148173381	chr1:210712646-210712647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191765059	chr1:210712688-210712689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537383681	chr1:210712726-210712727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182727701	chr1:210712748-210712749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187419631	chr1:210712755-210712756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115498744	chr1:210712756-210712757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545946946	chr1:210712759-210712760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141982672	chr1:210712782-210712783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150688357	chr1:210712868-210712869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192466427	chr1:210712887-210712888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75714838	chr1:210712893-210712894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529333277	chr1:210712910-210712911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548176681	chr1:210712915-210712916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566730203	chr1:210712941-210712942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534079977	chr1:210712973-210712974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568423136	chr1:210712980-210712981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573585117	chr1:210712982-210712983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529317484	chr1:210712992-210712993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149770427	chr1:210712993-210712994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371804137	chr1:210713010-210713011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542195650	chr1:210713025-210713026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547675008	chr1:210713027-210713028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529465377	chr1:210713038-210713039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574344363	chr1:210713045-210713046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147493311	chr1:210713046-210713047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563450211	chr1:210713121-210713122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185886076	chr1:210713198-210713199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376507062	chr1:210713244-210713245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12403873	chr1:210713273-210713274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139933566	chr1:210713276-210713277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11119536	chr1:210713298-210713299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189086051	chr1:210713354-210713355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17188337	chr1:210713359-210713360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537923699	chr1:210713394-210713395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551205013	chr1:210713483-210713484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201569369	chr1:210713500-210713501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397982781	chr1:210713504-210713505	Weak transcription	n/a	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:59 , 50 per page) page: 1 2

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	chr1:210709400-210715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:210709800-210715200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:210710000-210715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210710000-210715000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:210710000-210715000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:210710000-210715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:210710000-210715200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:210710000-210715400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:210710200-210715200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:210710200-210715200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:210710200-210715200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:210710400-210715200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210710600-210715200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:210710800-210719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:210711000-210715000	Weak transcription	HSMMtube	muscle
18	chr1:210715000-210715600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:210715000-210715600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:210715000-210715600	Enhancers	HSMMtube	muscle
21	chr1:210715200-210715400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:210715200-210715400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:210715200-210715400	Enhancers	Ovary	ovary
24	chr1:210715200-210715600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:210715200-210715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:210715200-210715600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:210715200-210715600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:210715200-210715600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:210715200-210715600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:210715200-210715600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:210715200-210715600	Enhancers	NH-A	brain
32	chr1:210715200-210715800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:210715200-210715800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:210715200-210715800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:210715400-210715600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:210715400-210715800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:210715400-210721000	Weak transcription	Ovary	ovary
38	chr1:210715600-210715800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
40	chr1:210715800-210716400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:210716400-210716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:210718800-210721400	Weak transcription	Right Ventricle	heart
43	chr1:210719000-210719400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:210719000-210721400	Weak transcription	Left Ventricle	heart
45	chr1:210719400-210722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:210719600-210720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:210720000-210720200	Enhancers	Fetal Heart	heart
48	chr1:210720200-210720800	Weak transcription	Fetal Heart	heart
49	chr1:210720200-210722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:210720800-210721000	Enhancers	Fetal Heart	heart

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