Variant report

Variant	nsv972218
Chromosome Location	chr8:105212152-105220955
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	chr8:105207373..105209743-chr8:105210313..105212333,2	MCF-7	breast:

Extended variants
information (count: 299 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145743931	chr8:105212175-105212176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78400610	chr8:105212217-105212218	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149307231	chr8:105212235-105212236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532324044	chr8:105212253-105212254	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531603703	chr8:105212296-105212297	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144537376	chr8:105212308-105212309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148066403	chr8:105212313-105212314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187151821	chr8:105212346-105212347	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551736693	chr8:105212468-105212469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111832872	chr8:105212507-105212508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566996442	chr8:105212654-105212655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534494784	chr8:105212663-105212664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571449029	chr8:105212673-105212674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4292656	chr8:105212735-105212736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112728908	chr8:105212763-105212764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189458186	chr8:105212813-105212814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373207050	chr8:105212842-105212843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571172157	chr8:105212851-105212852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181452740	chr8:105212859-105212860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147142728	chr8:105212862-105212863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7012041	chr8:105212868-105212869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140344836	chr8:105212873-105212874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571955521	chr8:105212906-105212907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73596193	chr8:105212916-105212917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545594705	chr8:105213083-105213084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563996331	chr8:105213117-105213118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531515380	chr8:105213139-105213140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7824950	chr8:105213151-105213152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374395371	chr8:105213190-105213191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144190788	chr8:105213200-105213201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369334925	chr8:105213217-105213218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7841196	chr8:105213314-105213315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560640840	chr8:105213330-105213331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567209540	chr8:105213338-105213339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185746468	chr8:105213344-105213345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71520871	chr8:105213358-105213359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536351477	chr8:105213377-105213378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2511648	chr8:105213411-105213412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2441907	chr8:105213484-105213485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538929302	chr8:105213544-105213545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538567207	chr8:105213570-105213571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532356176	chr8:105213613-105213614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549734269	chr8:105213670-105213671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568002772	chr8:105213674-105213675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190552880	chr8:105213749-105213750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182801367	chr8:105213884-105213885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571815167	chr8:105213885-105213886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558850163	chr8:105213906-105213907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539210254	chr8:105213945-105213946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115932771	chr8:105213979-105213980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105210400-105213600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:105210800-105213200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105210800-105214000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:105211400-105213200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:105211400-105213200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:105211600-105213200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:105211800-105212200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:105211800-105212400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:105211800-105212400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:105211800-105212400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:105211800-105212400	Enhancers	NH-A	brain
12	chr8:105211800-105212400	Flanking Active TSS	NHEK	skin
13	chr8:105211800-105213200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:105211800-105213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:105212000-105212400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:105212000-105212400	Flanking Active TSS	HMEC	breast
17	chr8:105212000-105212400	Enhancers	NHDF-Ad	bronchial
18	chr8:105212400-105213400	Enhancers	HMEC	breast
19	chr8:105212400-105215000	Enhancers	NHEK	skin
20	chr8:105213200-105216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:105213200-105216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:105213200-105217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:105213200-105218800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:105213400-105218600	Weak transcription	HMEC	breast
25	chr8:105213600-105216600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:105214000-105214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:105214400-105215000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:105215000-105216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:105215000-105216200	Weak transcription	NHEK	skin
30	chr8:105216200-105216800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:105216200-105217400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:105216200-105218800	Enhancers	NHEK	skin
33	chr8:105216400-105217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:105216600-105219200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:105216800-105217600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:105217400-105218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:105217400-105218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:105217600-105219000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:105217600-105219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:105218200-105219200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:105218200-105219200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:105218600-105219400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:105218600-105219400	Enhancers	HMEC	breast
44	chr8:105218800-105219200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr8:105218800-105219200	Enhancers	NH-A	brain
46	chr8:105218800-105219200	Genic enhancers	NHEK	skin
47	chr8:105218800-105219600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:105219200-105219400	Enhancers	NHEK	skin
49	chr8:105219200-105222400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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