Variant report

Variant	nsv890871
Chromosome Location	chr8:50936174-51040022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
2	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:
3	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:
4	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:
5	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
6	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:

Extended variants
information (count: 3404 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3404 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1021202	chr8:50936174-50936175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544823005	chr8:50936239-50936240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563204747	chr8:50936274-50936275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530697955	chr8:50936298-50936299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373402184	chr8:50936299-50936300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72639845	chr8:50936308-50936309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561932196	chr8:50936309-50936310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183537513	chr8:50936352-50936353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372713099	chr8:50936371-50936372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151139403	chr8:50936417-50936418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566181502	chr8:50936422-50936423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187708483	chr8:50936441-50936442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140222605	chr8:50936444-50936445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554547040	chr8:50936516-50936517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552021291	chr8:50936545-50936546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570297888	chr8:50936548-50936549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2054742	chr8:50945006-50945007	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549840002	chr8:50945008-50945009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543268425	chr8:50945018-50945019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561264480	chr8:50945053-50945054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528051866	chr8:50945065-50945066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12546435	chr8:50945075-50945076	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182584867	chr8:50945100-50945101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185034808	chr8:50945123-50945124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138153989	chr8:50945127-50945128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs118031746	chr8:50945171-50945172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529228465	chr8:50945249-50945250	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149126009	chr8:50945300-50945301	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554870092	chr8:50945305-50945306	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189758556	chr8:50945324-50945325	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534107024	chr8:50945330-50945331	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553385446	chr8:50945332-50945333	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182381104	chr8:50945348-50945349	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs545479464	chr8:50945352-50945353	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557175795	chr8:50945376-50945377	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575762988	chr8:50945381-50945382	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs35085145	chr8:50945403-50945404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143302862	chr8:50945450-50945451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144820512	chr8:50945465-50945466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187099326	chr8:50945529-50945530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201438390	chr8:50945569-50945570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397807225	chr8:50945579-50945580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183364483	chr8:50945613-50945614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1471770	chr8:50945614-50945615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547941874	chr8:50945646-50945647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369907743	chr8:50945692-50945693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550610888	chr8:50945697-50945698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142027024	chr8:50945698-50945699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7816568	chr8:50945706-50945707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7839007	chr8:50945710-50945711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
Lung cancer	18438408	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
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50935800-50936600	Enhancers	Liver	Liver
2	chr8:50945000-50945400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50945200-50945400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:50945400-50946400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:50945400-50952200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:50946000-50947000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:50946200-50946800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:50946200-50947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:50946200-50947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:50946200-50947800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:50946400-50947600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:50946400-50947600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:50946400-50947800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:50946600-50947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:50946600-50947600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:50946800-50947200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:50947000-50947400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:50947200-50947800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:50947400-50947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:50947400-50948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:50947600-50949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:50948000-50952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:50948800-50949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:50952200-50952800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:50952400-50952600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:50952400-50952800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:50952400-50952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:50952400-50952800	Enhancers	Osteobl	bone
29	chr8:50952800-50956200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:50952800-50969800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:50958200-50959000	Enhancers	Hela-S3	cervix
32	chr8:50965400-50969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:50965600-50965800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:50965600-50965800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:50965600-50965800	Enhancers	HSMM	muscle
36	chr8:50965600-50966000	Enhancers	NHDF-Ad	bronchial
37	chr8:50966000-50966200	Weak transcription	NHDF-Ad	bronchial
38	chr8:50966000-50967200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:50966000-50967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:50966200-50966600	Enhancers	NHDF-Ad	bronchial
41	chr8:50966400-50966800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:50966400-50968600	Enhancers	Hela-S3	cervix
43	chr8:50966600-50966800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:50966600-50967000	Enhancers	HMEC	breast
45	chr8:50966600-50967400	Weak transcription	NHDF-Ad	bronchial
46	chr8:50966600-50968600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:50966800-50968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:50966800-50968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:50967000-50967400	Weak transcription	HMEC	breast
50	chr8:50967000-50968600	Enhancers	Osteobl	bone

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