Variant report

Variant	nsv508512
Chromosome Location	chr8:69268794-69324532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69095505..69096079-chr8:69306528..69307376,2	MCF-7	breast:
2	chr8:69282360..69284558-chr8:69284790..69287619,2	MCF-7	breast:
3	chr8:69282360..69284558-chr8:69284790..69287619,2	MCF-7	breast:

Extended variants
information (count: 1836 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575534529	chr8:69268800-69268801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188042381	chr8:69268819-69268820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16934459	chr8:69268922-69268923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546382454	chr8:69268927-69268928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567195185	chr8:69268933-69268934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540151287	chr8:69268961-69268962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553755971	chr8:69268976-69268977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180916051	chr8:69269035-69269036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112573643	chr8:69269045-69269046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562215449	chr8:69269079-69269080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148127044	chr8:69269094-69269095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188565539	chr8:69269117-69269118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141954468	chr8:69269227-69269228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528014930	chr8:69269240-69269241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76390123	chr8:69269252-69269253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567665254	chr8:69269326-69269327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573432861	chr8:69269356-69269357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs814440	chr8:69269381-69269382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113614288	chr8:69269484-69269485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570120303	chr8:69269496-69269497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181598373	chr8:69269499-69269500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74647804	chr8:69269706-69269707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186707319	chr8:69269744-69269745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534132315	chr8:69269751-69269752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142297653	chr8:69269784-69269785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192010082	chr8:69269835-69269836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146180624	chr8:69269845-69269846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542169616	chr8:69269904-69269905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368189379	chr8:69269979-69269980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555850296	chr8:69270006-69270007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs181997461	chr8:69270082-69270083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544681897	chr8:69270098-69270099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375059012	chr8:69270123-69270124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139044849	chr8:69270152-69270153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529683486	chr8:69270183-69270184	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149471867	chr8:69270188-69270189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541730872	chr8:69270279-69270280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs561374238	chr8:69270293-69270294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562998615	chr8:69270311-69270312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186497601	chr8:69270314-69270315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530530198	chr8:69270318-69270319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370623304	chr8:69270350-69270351	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143963401	chr8:69270368-69270369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148655295	chr8:69270381-69270382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571437380	chr8:69270393-69270394	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533721182	chr8:69270409-69270410	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552050849	chr8:69270414-69270415	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554039312	chr8:69270428-69270429	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567409059	chr8:69270432-69270433	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536138092	chr8:69270462-69270463	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69268000-69270600	Weak transcription	NHLF	lung
2	chr8:69268200-69270400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69269600-69270000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:69270000-69270400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:69270000-69270400	Enhancers	A549	lung
6	chr8:69270000-69270600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:69270400-69270800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:69270600-69270800	Enhancers	Aorta	Aorta
9	chr8:69270600-69271200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:69270600-69271200	Enhancers	NHLF	lung
11	chr8:69270800-69273400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:69270800-69291600	Weak transcription	Aorta	Aorta
13	chr8:69271000-69271200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:69271200-69272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:69271600-69272000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:69271600-69272000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:69271600-69272200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:69271600-69272400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:69272400-69272600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:69272600-69273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:69272800-69273800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:69273000-69273800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:69273000-69274200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:69273200-69273600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr8:69273400-69273800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:69273400-69273800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:69273400-69274000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:69273400-69274200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:69273600-69274000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:69273600-69274200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:69274000-69274400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr8:69283000-69283400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:69290000-69290800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:69290800-69295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:69291600-69292200	Enhancers	Aorta	Aorta
36	chr8:69292200-69295800	Weak transcription	Aorta	Aorta
37	chr8:69295600-69297000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:69295600-69299000	Enhancers	Fetal Lung	lung
39	chr8:69295800-69296200	Enhancers	Aorta	Aorta
40	chr8:69296000-69297600	Enhancers	Fetal Stomach	stomach
41	chr8:69296200-69299200	Weak transcription	Aorta	Aorta
42	chr8:69296600-69296800	Enhancers	Adipose Nuclei	Adipose
43	chr8:69296600-69297200	Enhancers	Fetal Brain Male	brain
44	chr8:69296600-69297600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:69296800-69303800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:69297000-69298800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:69297400-69297600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:69298200-69301800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:69298800-69299400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:69299000-69299400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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