Variant report

Variant	esv1851155
Chromosome Location	chr8:114673166-114773729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:
2	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:
3	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:
4	chr8:114728056..114730786-chr8:114735490..114737141,2	MCF-7	breast:
5	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
6	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:
7	chr8:114726767..114728382-chr8:114731029..114732643,2	K562	blood:

Extended variants
information (count: 944 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17613558	chr8:114673166-114673167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372949616	chr8:114673170-114673171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546929558	chr8:114673195-114673196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566720928	chr8:114673208-114673209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538876390	chr8:114673214-114673215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552375661	chr8:114673233-114673234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536332459	chr8:114673259-114673260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140028189	chr8:114673283-114673284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562050598	chr8:114673305-114673306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537977344	chr8:114673306-114673307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553110151	chr8:114673322-114673323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530324195	chr8:114673371-114673372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554905565	chr8:114673375-114673376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568476410	chr8:114673386-114673387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534073773	chr8:114673405-114673406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548801894	chr8:114673436-114673437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530732579	chr8:114673441-114673442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550519902	chr8:114673467-114673468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554134149	chr8:114673556-114673557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185707922	chr8:114673588-114673589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188916874	chr8:114673683-114673684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556106775	chr8:114673692-114673693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576041367	chr8:114673757-114673758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114691637	chr8:114673792-114673793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561716039	chr8:114673815-114673816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527333185	chr8:114673820-114673821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377292194	chr8:114673872-114673873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369795749	chr8:114673906-114673907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56345016	chr8:114673907-114673908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577778000	chr8:114673921-114673922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532683751	chr8:114673924-114673925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79693165	chr8:114673949-114673950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144443890	chr8:114673963-114673964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531793927	chr8:114673970-114673971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377731974	chr8:114673985-114673986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375957243	chr8:114674050-114674051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565931329	chr8:114674108-114674109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181566365	chr8:114674153-114674154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374406423	chr8:114674157-114674158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534218024	chr8:114674158-114674159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546583355	chr8:114674248-114674249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369312190	chr8:114674249-114674250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568391877	chr8:114674303-114674304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563298987	chr8:114674309-114674310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147331570	chr8:114674383-114674384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10105039	chr8:114674385-114674386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570730545	chr8:114674489-114674490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539353957	chr8:114674566-114674567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190177388	chr8:114674645-114674646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576197862	chr8:114674693-114674694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114671400-114674200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:114672600-114673600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:114673600-114674400	Enhancers	Primary B cells from cord blood	blood
4	chr8:114674200-114676600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:114676600-114677200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr8:114676800-114677200	ZNF genes & repeats	Dnd41	blood
7	chr8:114677200-114677800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:114677800-114678200	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:114677800-114678200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:114696000-114697800	Active TSS	Brain Anterior Caudate	brain
11	chr8:114696400-114697000	Enhancers	Primary B cells from cord blood	blood
12	chr8:114696400-114697200	Enhancers	GM12878-XiMat	blood
13	chr8:114696800-114698200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:114697000-114697200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:114697000-114697400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:114697000-114698200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:114697200-114698000	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:114697200-114698000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:114697400-114698600	Enhancers	Primary B cells from cord blood	blood
20	chr8:114698000-114698200	Enhancers	GM12878-XiMat	blood
21	chr8:114698000-114698200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:114698200-114703400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:114698200-114703600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:114703400-114704800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:114703600-114704800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:114703600-114705000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:114704200-114704600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:114706600-114706800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:114706600-114706800	ZNF genes & repeats	Esophagus	oesophagus
30	chr8:114706600-114706800	ZNF genes & repeats	Pancreas	Pancrea
31	chr8:114724200-114724400	Enhancers	Lung	lung
32	chr8:114739400-114739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:114746200-114746600	Enhancers	Dnd41	blood
34	chr8:114746400-114746600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:114746600-114746800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:114746600-114747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:114746600-114747400	Flanking Active TSS	Dnd41	blood
39	chr8:114746800-114747200	Active TSS	Primary hematopoietic stem cells	blood
40	chr8:114746800-114747200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells	blood
42	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:114747200-114747400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:114747400-114747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:114747400-114747600	Enhancers	Dnd41	blood
46	chr8:114747400-114749800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:114747400-114752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:114747400-114752800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:114747600-114752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:114749800-114753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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