Variant report

Variant	esv3479608
Chromosome Location	chr8:91201302-91202797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91199087..91202530-chr8:91204069..91207445,5	K562	blood:
2	chr8:91193596..91196582-chr8:91200011..91201961,3	K562	blood:
3	chr8:91200381..91201934-chr8:91204615..91207445,3	K562	blood:
4	chr8:91193596..91196355-chr8:91200011..91201961,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544358248	chr8:91201307-91201308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16904079	chr8:91201342-91201343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533231304	chr8:91201383-91201384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551418884	chr8:91201386-91201387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75603022	chr8:91201396-91201397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528541688	chr8:91201460-91201461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73295228	chr8:91201474-91201475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78792277	chr8:91201495-91201496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6982283	chr8:91201508-91201509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12681542	chr8:91201532-91201533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs58516164	chr8:91201552-91201553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73295234	chr8:91201571-91201572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs16904081	chr8:91201662-91201663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79187627	chr8:91201720-91201721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189812793	chr8:91201741-91201742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181907644	chr8:91201755-91201756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75115062	chr8:91201756-91201757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573372368	chr8:91201841-91201842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12676309	chr8:91201855-91201856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558640129	chr8:91201868-91201869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10504892	chr8:91201889-91201890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs545284885	chr8:91201893-91201894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372559915	chr8:91201909-91201910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16904083	chr8:91201914-91201915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371706307	chr8:91201931-91201932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150856091	chr8:91201934-91201935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370487459	chr8:91201936-91201937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12676331	chr8:91201956-91201957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562767417	chr8:91202025-91202026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186432866	chr8:91202033-91202034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529368372	chr8:91202090-91202091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550830339	chr8:91202143-91202144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577868336	chr8:91202178-91202179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367875646	chr8:91202224-91202225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569424794	chr8:91202233-91202234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73295243	chr8:91202255-91202256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190890786	chr8:91202295-91202296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553082173	chr8:91202347-91202348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568795626	chr8:91202386-91202387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182280206	chr8:91202422-91202423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115185279	chr8:91202435-91202436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117273929	chr8:91202436-91202437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185008328	chr8:91202439-91202440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556031415	chr8:91202501-91202502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371676788	chr8:91202511-91202512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191476102	chr8:91202542-91202543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182850488	chr8:91202548-91202549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549127782	chr8:91202560-91202561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560403140	chr8:91202600-91202601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35472847	chr8:91202602-91202603	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91200200-91201400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:91200600-91202600	Enhancers	K562	blood
3	chr8:91201400-91202600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:91202000-91202200	Enhancers	Placenta	Placenta
5	chr8:91202600-91204800	Weak transcription	K562	blood

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