Variant report

Variant	nsv971233
Chromosome Location	chr8:48629417-48631557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48629245..48631641-chr8:48646004..48648559,2	MCF-7	breast:
2	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
3	chr8:48628140..48630229-chr8:48635547..48637579,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577939474	chr8:48629484-48629485	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181811054	chr8:48629511-48629512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565735069	chr8:48629534-48629535	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539589952	chr8:48629563-48629564	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551339824	chr8:48629596-48629597	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368136922	chr8:48629685-48629686	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537072169	chr8:48629706-48629707	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555337133	chr8:48629744-48629745	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567230418	chr8:48629764-48629765	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534463356	chr8:48629843-48629844	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144963639	chr8:48629864-48629865	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35865932	chr8:48629918-48629919	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543625100	chr8:48629960-48629961	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149081723	chr8:48629996-48629997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146037281	chr8:48630170-48630171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147849803	chr8:48630200-48630201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11778548	chr8:48630207-48630208	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75490188	chr8:48630211-48630212	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186382462	chr8:48630408-48630409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141439901	chr8:48630414-48630415	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190734986	chr8:48630472-48630473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183649874	chr8:48630552-48630553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565511943	chr8:48630622-48630623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533036042	chr8:48630627-48630628	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77317996	chr8:48630685-48630686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147025328	chr8:48630686-48630687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4873619	chr8:48630687-48630688	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188138355	chr8:48630753-48630754	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372671792	chr8:48630754-48630755	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567218131	chr8:48630824-48630825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534638847	chr8:48630829-48630830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552736663	chr8:48630879-48630880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571138987	chr8:48630894-48630895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538851499	chr8:48630948-48630949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557143472	chr8:48630966-48630967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575703162	chr8:48630967-48630968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77006300	chr8:48631041-48631042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372270226	chr8:48631078-48631079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191261282	chr8:48631147-48631148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182579570	chr8:48631158-48631159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565597994	chr8:48631160-48631161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532718759	chr8:48631197-48631198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572635860	chr8:48631209-48631210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559742004	chr8:48631263-48631264	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573155406	chr8:48631265-48631266	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369566358	chr8:48631269-48631270	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186558858	chr8:48631300-48631301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141877421	chr8:48631375-48631376	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10101448	chr8:48631395-48631396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548690841	chr8:48631423-48631424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:48611800-48632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:48612000-48647400	Weak transcription	NH-A	brain
9	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:48613600-48632200	Weak transcription	Fetal Brain Female	brain
11	chr8:48613600-48636600	Weak transcription	NHDF-Ad	bronchial
12	chr8:48613600-48647200	Weak transcription	A549	lung
13	chr8:48615400-48632600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:48615800-48634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:48616400-48632600	Weak transcription	Fetal Brain Male	brain
16	chr8:48618000-48638800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48623400-48631400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:48623600-48629600	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:48624000-48630600	Strong transcription	Primary B cells from cord blood	blood
25	chr8:48624200-48630200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:48624200-48641600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:48624600-48629600	Weak transcription	Right Atrium	heart
29	chr8:48624600-48643800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:48624800-48635600	Weak transcription	K562	blood
31	chr8:48626200-48632200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:48626200-48638400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
34	chr8:48626400-48632600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:48626400-48634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48626600-48629600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:48626600-48632200	Weak transcription	Brain Germinal Matrix	brain
38	chr8:48626600-48632400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:48626600-48639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:48626600-48646400	Weak transcription	Osteobl	bone
41	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:48626800-48629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:48626800-48629600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:48626800-48629600	Weak transcription	Right Ventricle	heart
46	chr8:48626800-48630000	Weak transcription	HepG2	liver
47	chr8:48626800-48631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:48626800-48632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:48626800-48632200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:48626800-48632200	Weak transcription	Placenta Amnion	Placenta Amnion

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