Variant report

Variant	nsv525612
Chromosome Location	chr8:79008608-79046695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:79014553..79016240-chr8:79017102..79020080,2	MCF-7	breast:
2	chr8:79030786..79033245-chr8:79035486..79037227,2	K562	blood:
3	chr8:79030786..79033245-chr8:79035486..79037227,2	K562	blood:
4	chr8:79014553..79016240-chr8:79017102..79020080,2	MCF-7	breast:

Extended variants
information (count: 722 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1481513	chr8:79008608-79008609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185183615	chr8:79008638-79008639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567270252	chr8:79008658-79008659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113071941	chr8:79008803-79008804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190042901	chr8:79008805-79008806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182573248	chr8:79008829-79008830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140493232	chr8:79008889-79008890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73686972	chr8:79008897-79008898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10283212	chr8:79008962-79008963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534113661	chr8:79008975-79008976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535422745	chr8:79008976-79008977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547845996	chr8:79009024-79009025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552711898	chr8:79009035-79009036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56080040	chr8:79009063-79009064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151062763	chr8:79009066-79009067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188251181	chr8:79009075-79009076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574883641	chr8:79009086-79009087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576240910	chr8:79009119-79009120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535884221	chr8:79009132-79009133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553960301	chr8:79009144-79009145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572528623	chr8:79009180-79009181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546000992	chr8:79009209-79009210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563901386	chr8:79009210-79009211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575839475	chr8:79009212-79009213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543266913	chr8:79009221-79009222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193155826	chr8:79009251-79009252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528848201	chr8:79009255-79009256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547402192	chr8:79009294-79009295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559109487	chr8:79009330-79009331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140958757	chr8:79009358-79009359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149774531	chr8:79009389-79009390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543349959	chr8:79009396-79009397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558757513	chr8:79009417-79009418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571011545	chr8:79009428-79009429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183663851	chr8:79009441-79009442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550488592	chr8:79009453-79009454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568807261	chr8:79009473-79009474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535461109	chr8:79009533-79009534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6473088	chr8:79009590-79009591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572362400	chr8:79009643-79009644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189051632	chr8:79009653-79009654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372204068	chr8:79009713-79009714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557830903	chr8:79009716-79009717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575829373	chr8:79009723-79009724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543252849	chr8:79009784-79009785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192609381	chr8:79009800-79009801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146778722	chr8:79009803-79009804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183735343	chr8:79009847-79009848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540984824	chr8:79009864-79009865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572445510	chr8:79009865-79009866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78997000-79010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:79010000-79010200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:79010400-79010800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:79020000-79020400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:79020400-79020800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:79020400-79021600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:79020600-79020800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:79020600-79021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:79020800-79021600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:79021600-79021800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:79025400-79025800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:79025400-79026000	Enhancers	NHEK	skin
13	chr8:79025600-79025800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:79025800-79026000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:79025800-79026800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:79026000-79026600	Weak transcription	NHEK	skin
17	chr8:79026000-79027000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:79026600-79027000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:79026600-79027000	Active TSS	NHEK	skin
20	chr8:79026600-79028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:79026800-79027000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:79026800-79029200	Enhancers	HMEC	breast
23	chr8:79027000-79027200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:79027000-79027200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:79027000-79027200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:79027000-79027200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:79027000-79027600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:79027000-79027600	Enhancers	Esophagus	oesophagus
29	chr8:79027000-79027600	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:79027000-79027800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:79027000-79027800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:79027000-79027800	Flanking Active TSS	NHEK	skin
33	chr8:79027200-79027400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:79027200-79027400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:79027200-79029200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:79027400-79027600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:79027400-79027600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:79027400-79027800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:79027400-79027800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:79027400-79027800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:79027400-79028400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:79027600-79027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:79027600-79028800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:79027600-79029000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:79027600-79029200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:79027800-79028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:79027800-79029400	Enhancers	NHEK	skin
48	chr8:79027800-79030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:79027800-79030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:79027800-79031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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