Variant report

Variant	nsv438069
Chromosome Location	chr8:91183774-91186718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91185841..91188123-chr8:91204110..91206951,2	MCF-7	breast:
2	chr8:91179420..91181498-chr8:91184208..91186525,2	MCF-7	breast:
3	chr8:91177198..91178801-chr8:91185940..91187719,2	MCF-7	breast:
4	chr8:91184470..91187262-chr8:91242748..91244864,2	K562	blood:
5	chr8:91180611..91183081-chr8:91185061..91187294,2	K562	blood:
6	chr8:91182635..91184941-chr8:91189567..91191174,2	MCF-7	breast:
7	chr8:91185537..91188064-chr8:91252722..91255551,2	K562	blood:
8	chr8:91186436..91188660-chr8:91289229..91291075,2	K562	blood:
9	chr8:91183433..91185602-chr8:91248218..91250005,2	K562	blood:
10	chr8:91175219..91178633-chr8:91184019..91187268,3	K562	blood:

No data

Extended variants
information (count: 115 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4961177	chr8:91183774-91183775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563232810	chr8:91183786-91183787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577210856	chr8:91183818-91183819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192592837	chr8:91183820-91183821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145230111	chr8:91183841-91183842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568906508	chr8:91183878-91183879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79720351	chr8:91183880-91183881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560069319	chr8:91183938-91183939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549075904	chr8:91183952-91183953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537900938	chr8:91183958-91183959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527456267	chr8:91184006-91184007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548923030	chr8:91184020-91184021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560889102	chr8:91184029-91184030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184725380	chr8:91184072-91184073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112375794	chr8:91184101-91184102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78088467	chr8:91184116-91184117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73306300	chr8:91184123-91184124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188310979	chr8:91184129-91184130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539838883	chr8:91184137-91184138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551759392	chr8:91184173-91184174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566887743	chr8:91184183-91184184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137898953	chr8:91184233-91184234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555859950	chr8:91184307-91184308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149055400	chr8:91184313-91184314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538474473	chr8:91184347-91184348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556578183	chr8:91184351-91184352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374941609	chr8:91184384-91184385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577872888	chr8:91184385-91184386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545302042	chr8:91184409-91184410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559682809	chr8:91184428-91184429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549800354	chr8:91184445-91184446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557996068	chr8:91184488-91184489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561071767	chr8:91184571-91184572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531395462	chr8:91184582-91184583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549994509	chr8:91184632-91184633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565076588	chr8:91184675-91184676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532413953	chr8:91184714-91184715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547735976	chr8:91184763-91184764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73307904	chr8:91184764-91184765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534234191	chr8:91184818-91184819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116347751	chr8:91184866-91184867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2974995	chr8:91184867-91184868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537958881	chr8:91184896-91184897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181014737	chr8:91184897-91184898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183763815	chr8:91184979-91184980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189700632	chr8:91184995-91184996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143088161	chr8:91185014-91185015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577880379	chr8:91185125-91185126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554069737	chr8:91185158-91185159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181235288	chr8:91185200-91185201	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91177000-91187000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91183600-91185000	Enhancers	K562	blood
3	chr8:91184200-91184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:91185000-91186800	Weak transcription	K562	blood

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