Variant report

Variant	esv3443436
Chromosome Location	chr1:221969158-221971634
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	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:
2	chr1:221970090..221972076-chr1:221974021..221976079,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71562692	chr1:221969159-221969160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71562693	chr1:221969166-221969167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71562694	chr1:221969170-221969171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386639654	chr1:221969172-221969173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199514791	chr1:221969173-221969174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543111992	chr1:221969212-221969213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567371295	chr1:221969217-221969218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373118309	chr1:221969272-221969273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377400919	chr1:221969274-221969275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572720756	chr1:221969280-221969281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540324378	chr1:221969293-221969294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35582124	chr1:221969306-221969307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7551559	chr1:221969309-221969310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529092251	chr1:221969367-221969368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10495179	chr1:221969368-221969369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561244369	chr1:221969443-221969444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12127111	chr1:221969470-221969471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140498118	chr1:221969486-221969487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59735022	chr1:221969497-221969498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180983654	chr1:221969502-221969503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139822158	chr1:221969555-221969556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76188755	chr1:221969556-221969557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537149727	chr1:221969573-221969574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111724336	chr1:221969593-221969594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549497226	chr1:221969594-221969595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183686023	chr1:221969634-221969635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538469270	chr1:221969660-221969661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10863657	chr1:221969688-221969689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143095895	chr1:221969706-221969707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113223599	chr1:221969752-221969753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369831225	chr1:221969762-221969763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539339240	chr1:221969848-221969849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188739426	chr1:221969867-221969868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12354339	chr1:221969874-221969875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181129905	chr1:221969999-221970000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186772146	chr1:221970066-221970067	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561490405	chr1:221970087-221970088	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190419974	chr1:221970108-221970109	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549914746	chr1:221970109-221970110	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562367532	chr1:221970116-221970117	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532917376	chr1:221970128-221970129	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551665763	chr1:221970146-221970147	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567214882	chr1:221970163-221970164	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560179721	chr1:221970194-221970195	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114425458	chr1:221970204-221970205	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4581289	chr1:221970253-221970254	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79731794	chr1:221970309-221970310	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181694411	chr1:221970312-221970313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368510744	chr1:221970316-221970317	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59766144	chr1:221970345-221970346	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	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	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221960400-221970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:221964600-221969200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:221967800-221970600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:221968000-221970400	Weak transcription	HMEC	breast
6	chr1:221968000-221974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:221968400-221972800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:221968600-221974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:221970000-221970400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:221970400-221971200	Enhancers	HMEC	breast
11	chr1:221970600-221971200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:221970800-221971200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:221970800-221971200	Enhancers	NHEK	skin
14	chr1:221971200-221975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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