Variant report

Variant	esv3355469
Chromosome Location	chr1:220501029-220505527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220503407..220505122-chr1:220514506..220516163,2	K562	blood:
2	chr1:220501802..220503799-chr1:220507368..220509036,2	MCF-7	breast:
3	chr1:220505070..220506632-chr1:220508867..220511309,2	MCF-7	breast:
4	chr1:220503462..220505914-chr1:220509183..220511550,3	MCF-7	breast:

Extended variants
information (count: 181 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532720171	chr1:220501043-220501044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561769376	chr1:220501097-220501098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546361038	chr1:220501098-220501099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75252193	chr1:220501159-220501160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139973807	chr1:220501186-220501187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548703698	chr1:220501221-220501222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71666349	chr1:220501250-220501251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397734836	chr1:220501266-220501267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149863777	chr1:220501289-220501290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185927499	chr1:220501300-220501301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550902754	chr1:220501318-220501319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527676197	chr1:220501337-220501338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190781254	chr1:220501374-220501375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72749236	chr1:220501387-220501388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373929583	chr1:220501404-220501405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539664061	chr1:220501417-220501418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377583960	chr1:220501512-220501513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17007505	chr1:220501518-220501519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374170585	chr1:220501530-220501531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376719566	chr1:220501539-220501540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371632086	chr1:220501606-220501607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6657633	chr1:220501610-220501611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145866611	chr1:220501634-220501635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571857154	chr1:220501640-220501641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540490109	chr1:220501647-220501648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574400687	chr1:220501736-220501737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140757424	chr1:220501762-220501763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557500856	chr1:220501817-220501818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11118523	chr1:220501889-220501890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546199541	chr1:220501897-220501898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372943139	chr1:220501898-220501899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143182734	chr1:220501925-220501926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531821312	chr1:220501932-220501933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542481221	chr1:220501942-220501943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562160581	chr1:220501968-220501969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146686785	chr1:220502012-220502013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10588119	chr1:220502057-220502058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398103722	chr1:220502060-220502061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565342597	chr1:220502068-220502069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183157202	chr1:220502078-220502079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564345458	chr1:220502085-220502086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370199946	chr1:220502093-220502094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533207969	chr1:220502130-220502131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140303923	chr1:220502177-220502178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574504786	chr1:220502185-220502186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569977514	chr1:220502274-220502275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186396512	chr1:220502277-220502278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548796396	chr1:220502291-220502292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537315083	chr1:220502301-220502302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574381892	chr1:220502306-220502307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220498800-220503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:220499000-220501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:220499000-220502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220500000-220501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220500000-220502600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:220500200-220502800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:220500800-220501200	Weak transcription	Esophagus	oesophagus
10	chr1:220500800-220509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:220501200-220501400	Enhancers	Esophagus	oesophagus
12	chr1:220501400-220508800	Weak transcription	Esophagus	oesophagus
13	chr1:220501600-220502200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:220501800-220502800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:220502200-220502600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:220502600-220502800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:220502600-220502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:220502600-220503000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:220502600-220503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:220502600-220504200	Enhancers	Brain Germinal Matrix	brain
21	chr1:220502800-220503000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:220502800-220503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:220502800-220503600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:220502800-220504200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:220502800-220505000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:220503000-220505000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:220503200-220503400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:220503200-220510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:220503400-220503800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:220503400-220509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:220503600-220504000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:220503600-220504200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:220503600-220504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:220503800-220504000	Flanking Active TSS	Osteobl	bone
35	chr1:220503800-220504200	Enhancers	Adipose Nuclei	Adipose
36	chr1:220504000-220504200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:220504200-220509000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:220504800-220505200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:220505200-220510600	Weak transcription	H9 Cell Line	embryonic stem cell

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