Variant report

Variant	nsv873175
Chromosome Location	chr1:216188698-216219781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216208048..216208557-chr1:216367548..216368089,2	MCF-7	breast:
2	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:
3	chr1:216061603..216062225-chr1:216207802..216208490,2	MCF-7	breast:

Extended variants
information (count: 662 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10779662	chr1:216188698-216188699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376931217	chr1:216188708-216188709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556038226	chr1:216188717-216188718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569779515	chr1:216188769-216188770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555327892	chr1:216188798-216188799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150495250	chr1:216188852-216188853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572526533	chr1:216188887-216188888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541689911	chr1:216188891-216188892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12145019	chr1:216188929-216188930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530331861	chr1:216188930-216188931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578060527	chr1:216188931-216188932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185010767	chr1:216188946-216188947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563820621	chr1:216189004-216189005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563947896	chr1:216189037-216189038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567361468	chr1:216189135-216189136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12759256	chr1:216189160-216189161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559662078	chr1:216189176-216189177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552640033	chr1:216189194-216189195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11120718	chr1:216189233-216189234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547081509	chr1:216189248-216189249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190401792	chr1:216189249-216189250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55839123	chr1:216189250-216189251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544559710	chr1:216189267-216189268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377152199	chr1:216189269-216189270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549700081	chr1:216189338-216189339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192701605	chr1:216189343-216189344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10864223	chr1:216189350-216189351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555544179	chr1:216189358-216189359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565700307	chr1:216189363-216189364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185001158	chr1:216189383-216189384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567405335	chr1:216189403-216189404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11120719	chr1:216189410-216189411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543824939	chr1:216189433-216189434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557359359	chr1:216189452-216189453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555934217	chr1:216189459-216189460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142002320	chr1:216189486-216189487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189117084	chr1:216189490-216189491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34992985	chr1:216189510-216189511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559936963	chr1:216189586-216189587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2365885	chr1:216189626-216189627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540754424	chr1:216189860-216189861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545229526	chr1:216189870-216189871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115839989	chr1:216189872-216189873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538330747	chr1:216189896-216189897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376828754	chr1:216189911-216189912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558158552	chr1:216189988-216189989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368971852	chr1:216190041-216190042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549385266	chr1:216190073-216190074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572027747	chr1:216190091-216190092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180696805	chr1:216190116-216190117	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Ovarian cancer	21720365	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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216187200-216188800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:216187200-216188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:216187800-216188800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:216187800-216188800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:216187800-216188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:216188200-216188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:216188200-216188800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:216188200-216189200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:216188800-216190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:216190000-216190200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:216193000-216193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:216193800-216194200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:216204800-216205400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:216206000-216206600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:216206000-216207200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:216206600-216211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:216211800-216212200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:216212200-216216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:216216800-216218800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:216217000-216217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:216217400-216218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:216217400-216221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:216218000-216220000	Enhancers	HSMM	muscle
24	chr1:216218200-216219200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:216218200-216219400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:216218200-216219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:216218200-216219400	Enhancers	HMEC	breast
28	chr1:216218200-216219400	Enhancers	NHEK	skin
29	chr1:216218200-216219600	Enhancers	NH-A	brain
30	chr1:216218200-216221400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:216218200-216222000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:216218400-216219200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:216218400-216219800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:216218400-216220200	Enhancers	NHDF-Ad	bronchial
35	chr1:216218600-216220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:216218800-216219400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:216218800-216219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:216218800-216219600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:216219000-216219400	Enhancers	HSMMtube	muscle
40	chr1:216219000-216220000	Enhancers	NHLF	lung
41	chr1:216219200-216219400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr1:216219200-216221800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:216219600-216220000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:216219600-216221000	Weak transcription	NH-A	brain

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