Variant report

Variant	nsv611312
Chromosome Location	chr8:50930075-51011122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:
2	chr8:50988839..50990732-chr8:50993883..50996257,2	K562	blood:
3	chr8:50709168..50710848-chr8:50931158..50933465,2	MCF-7	breast:
4	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:
5	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:
6	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:

Extended variants
information (count: 2456 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2456 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948002	chr8:50930075-50930076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553837402	chr8:50930084-50930085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375497604	chr8:50930090-50930091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186937359	chr8:50930101-50930102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534584806	chr8:50930139-50930140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552676279	chr8:50930148-50930149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577592435	chr8:50930205-50930206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201188814	chr8:50930225-50930226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544771857	chr8:50930235-50930236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545907617	chr8:50930246-50930247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563081433	chr8:50930265-50930266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191631515	chr8:50930303-50930304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542416223	chr8:50930393-50930394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560820719	chr8:50930414-50930415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553925848	chr8:50930430-50930431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564958079	chr8:50930454-50930455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528389458	chr8:50930502-50930503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35050377	chr8:50930538-50930539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563113031	chr8:50930551-50930552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544598879	chr8:50930564-50930565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531917158	chr8:50930601-50930602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11998408	chr8:50930603-50930604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562208299	chr8:50930606-50930607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1601298	chr8:50930698-50930699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112920140	chr8:50930752-50930753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183226354	chr8:50930795-50930796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187982858	chr8:50930896-50930897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556697192	chr8:50930908-50930909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191288980	chr8:50930921-50930922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534983315	chr8:50930956-50930957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553673857	chr8:50930959-50930960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571144469	chr8:50931008-50931009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538257042	chr8:50931028-50931029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556591431	chr8:50931061-50931062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578135895	chr8:50931063-50931064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575015703	chr8:50931071-50931072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542377541	chr8:50931133-50931134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376678223	chr8:50931156-50931157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554453386	chr8:50931159-50931160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547427370	chr8:50931160-50931161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148881240	chr8:50931177-50931178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75914910	chr8:50931215-50931216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546840567	chr8:50931233-50931234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182242380	chr8:50931258-50931259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372457677	chr8:50931271-50931272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563745996	chr8:50931287-50931288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531044367	chr8:50931310-50931311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549525238	chr8:50931316-50931317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143568574	chr8:50931360-50931361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187693215	chr8:50931369-50931370	Weak transcription	n/a	n/a	Overlapped CNVs	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:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50913600-50935200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50931800-50933600	Enhancers	Brain Germinal Matrix	brain
3	chr8:50932200-50932400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:50932400-50932800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:50932400-50932800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:50932800-50933400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:50934000-50934800	Enhancers	Liver	Liver
8	chr8:50934800-50935200	Flanking Active TSS	Liver	Liver
9	chr8:50934800-50935400	Enhancers	Adipose Nuclei	Adipose
10	chr8:50934800-50936000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:50935200-50935400	Enhancers	Liver	Liver
12	chr8:50935400-50935800	Flanking Active TSS	Liver	Liver
13	chr8:50935800-50936600	Enhancers	Liver	Liver
14	chr8:50945000-50945400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:50945200-50945400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:50945400-50946400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:50945400-50952200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:50946000-50947000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:50946200-50946800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:50946200-50947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:50946200-50947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:50946200-50947800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:50946400-50947600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:50946400-50947600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:50946400-50947800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:50946600-50947000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:50946600-50947600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:50946800-50947200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:50947000-50947400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:50947200-50947800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:50947400-50947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:50947400-50948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:50947600-50949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:50948000-50952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:50948800-50949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:50952200-50952800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:50952400-50952600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:50952400-50952800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:50952400-50952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:50952400-50952800	Enhancers	Osteobl	bone
41	chr8:50952800-50956200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:50952800-50969800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:50958200-50959000	Enhancers	Hela-S3	cervix
44	chr8:50965400-50969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:50965600-50965800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:50965600-50965800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:50965600-50965800	Enhancers	HSMM	muscle
48	chr8:50965600-50966000	Enhancers	NHDF-Ad	bronchial
49	chr8:50966000-50966200	Weak transcription	NHDF-Ad	bronchial
50	chr8:50966000-50967200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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