Variant report

Variant	nsv438068
Chromosome Location	chr8:90330854-90337010
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	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:

Extended variants
information (count: 250 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55822643	chr8:90330854-90330855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531837356	chr8:90330899-90330900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141239515	chr8:90330957-90330958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552036960	chr8:90330978-90330979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560443377	chr8:90330980-90330981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373278412	chr8:90330992-90330993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200677991	chr8:90331029-90331030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191285087	chr8:90331032-90331033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551293238	chr8:90331068-90331069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4568650	chr8:90331084-90331085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146945231	chr8:90331130-90331131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113371715	chr8:90331181-90331182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10086662	chr8:90331211-90331212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377725004	chr8:90331234-90331235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183919526	chr8:90331254-90331255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10089719	chr8:90331256-90331257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577586146	chr8:90331320-90331321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545693530	chr8:90331321-90331322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560801134	chr8:90331361-90331362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10086804	chr8:90331362-90331363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543289985	chr8:90331376-90331377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368244460	chr8:90331380-90331381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10086889	chr8:90331390-90331391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550270798	chr8:90331401-90331402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188588430	chr8:90331460-90331461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532407430	chr8:90331487-90331488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538690822	chr8:90331506-90331507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200373663	chr8:90331511-90331512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10087030	chr8:90331518-90331519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527586413	chr8:90331538-90331539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181585680	chr8:90331560-90331561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567468316	chr8:90331580-90331581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112468089	chr8:90331581-90331582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556249603	chr8:90331601-90331602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572389626	chr8:90331602-90331603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12548377	chr8:90331630-90331631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186699332	chr8:90331659-90331660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538677075	chr8:90331677-90331678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190073828	chr8:90331698-90331699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1479909	chr8:90331699-90331700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543359208	chr8:90331760-90331761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1479911	chr8:90331761-90331762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs374792159	chr8:90331783-90331784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543539229	chr8:90331829-90331830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565421420	chr8:90331846-90331847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532370762	chr8:90331878-90331879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181726367	chr8:90331923-90331924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540981591	chr8:90331933-90331934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543497899	chr8:90331947-90331948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564867551	chr8:90331977-90331978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90327600-90334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90330000-90331200	Weak transcription	Fetal Brain Female	brain
3	chr8:90330000-90334200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90330800-90331400	Enhancers	Fetal Brain Male	brain
5	chr8:90331400-90331600	Enhancers	Fetal Brain Female	brain
6	chr8:90333800-90335200	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:90334000-90334200	Weak transcription	NH-A	brain
8	chr8:90334000-90334800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:90334000-90335000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:90334000-90335000	Enhancers	HUVEC	blood vessel
11	chr8:90334000-90335200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:90334000-90335800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:90334000-90336200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:90334200-90334400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:90334200-90334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:90334200-90334600	Enhancers	NHEK	skin
17	chr8:90334200-90334800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:90334200-90335000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:90334200-90335000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:90334200-90335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:90334200-90335000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:90334200-90335000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:90334200-90335200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:90334200-90335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:90334200-90335200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:90334200-90335200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:90334200-90335200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:90334200-90335200	Enhancers	NH-A	brain
29	chr8:90334200-90336400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:90334400-90334800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:90334400-90334800	Enhancers	Hela-S3	cervix
32	chr8:90334400-90335000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:90334400-90335000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:90334400-90335000	Enhancers	Dnd41	blood
35	chr8:90334400-90335200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:90334400-90335200	Enhancers	HMEC	breast
37	chr8:90334400-90335200	Enhancers	NHDF-Ad	bronchial
38	chr8:90334600-90334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:90334600-90334800	Flanking Active TSS	NHEK	skin
40	chr8:90334600-90335000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:90334600-90335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:90334600-90335000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:90334600-90335000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:90334600-90335000	Enhancers	A549	lung
45	chr8:90334600-90335200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:90334600-90335200	Enhancers	Osteobl	bone
47	chr8:90334800-90335000	Active TSS	NHEK	skin
48	chr8:90334800-90335600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:90334800-90337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:90335000-90337600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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