Variant report

Variant	esv3357030
Chromosome Location	chr8:91244726-91246674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91011585..91013133-chr8:91244828..91247817,2	K562	blood:
2	chr8:91184470..91187262-chr8:91242748..91244864,2	K562	blood:
3	chr8:90995721..90998156-chr8:91242084..91244807,2	K562	blood:
4	chr8:91204703..91206737-chr8:91244479..91246995,2	K562	blood:
5	chr8:91093674..91096171-chr8:91242655..91245127,2	K562	blood:

Variant related genes	Relation type
ENSG00000104327	chromatin interactions
ENSG00000104320	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554880292	chr8:91244728-91244729	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574434081	chr8:91244757-91244758	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57640703	chr8:91244813-91244814	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs55899852	chr8:91244832-91244833	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373522749	chr8:91244851-91244852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190636759	chr8:91244866-91244867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547037250	chr8:91244908-91244909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9969546	chr8:91244935-91244936	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535987342	chr8:91244966-91244967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554232940	chr8:91244992-91244993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569551397	chr8:91245014-91245015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs180990411	chr8:91245017-91245018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546483150	chr8:91245034-91245035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558837835	chr8:91245086-91245087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577031871	chr8:91245093-91245094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs72606649	chr8:91245106-91245107	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186031267	chr8:91245168-91245169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72606650	chr8:91245185-91245186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151224409	chr8:91245245-91245246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550531961	chr8:91245347-91245348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561344425	chr8:91245368-91245369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191252078	chr8:91245401-91245402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543997503	chr8:91245403-91245404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565581709	chr8:91245445-91245446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10539323	chr8:91245463-91245464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61581719	chr8:91245470-91245471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199534913	chr8:91245475-91245476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200641933	chr8:91245477-91245478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71266114	chr8:91245481-91245482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59010108	chr8:91245485-91245486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181167643	chr8:91245496-91245497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10539324	chr8:91245509-91245510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67965039	chr8:91245510-91245511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12707940	chr8:91245522-91245523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190480247	chr8:91245534-91245535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58992104	chr8:91245536-91245537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371642837	chr8:91245546-91245547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10539325	chr8:91245547-91245548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369661752	chr8:91245548-91245549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373390436	chr8:91245560-91245561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57123081	chr8:91245562-91245563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71504348	chr8:91245572-91245573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35772732	chr8:91245573-91245574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1312196	chr8:91245574-91245575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376800760	chr8:91245585-91245586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67005157	chr8:91245588-91245589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34113652	chr8:91245601-91245602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1312198	chr8:91245602-91245603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532647242	chr8:91245610-91245611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548063349	chr8:91245612-91245613	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	chr8:91240600-91244800	Enhancers	Hela-S3	cervix
2	chr8:91243800-91248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:91244600-91244800	Genic enhancers	K562	blood
4	chr8:91244800-91246800	Weak transcription	K562	blood

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