Variant report

Variant	esv3529282
Chromosome Location	chr8:115077726-115081749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181816819	chr8:115077730-115077731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532717393	chr8:115077741-115077742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201215080	chr8:115077776-115077777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139795011	chr8:115077777-115077778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57934127	chr8:115077778-115077779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138307844	chr8:115077807-115077808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186461527	chr8:115077812-115077813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149220177	chr8:115077857-115077858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548182166	chr8:115077970-115077971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568402156	chr8:115078048-115078049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191637495	chr8:115078087-115078088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530757838	chr8:115078094-115078095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550461115	chr8:115078142-115078143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547669671	chr8:115078182-115078183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144561711	chr8:115078192-115078193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539630069	chr8:115078254-115078255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73706006	chr8:115078282-115078283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11777624	chr8:115078284-115078285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138549563	chr8:115078392-115078393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183625607	chr8:115078412-115078413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572005449	chr8:115078494-115078495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540598039	chr8:115078527-115078528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560822582	chr8:115078554-115078555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546014481	chr8:115078580-115078581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374462390	chr8:115078613-115078614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397518072	chr8:115078614-115078615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386728944	chr8:115078615-115078616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370938173	chr8:115078618-115078619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77449337	chr8:115078619-115078620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76987013	chr8:115078620-115078621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566473505	chr8:115078664-115078665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77744368	chr8:115078706-115078707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373202656	chr8:115078735-115078736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75375325	chr8:115078740-115078741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141622386	chr8:115078749-115078750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531702396	chr8:115078779-115078780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7833715	chr8:115078780-115078781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80020721	chr8:115078821-115078822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573040101	chr8:115078842-115078843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4266680	chr8:115078878-115078879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375912323	chr8:115078909-115078910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540288077	chr8:115078938-115078939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368977074	chr8:115079005-115079006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191321800	chr8:115079030-115079031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527665901	chr8:115079036-115079037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145378973	chr8:115079079-115079080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116943549	chr8:115079083-115079084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533214431	chr8:115079131-115079132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28404904	chr8:115079209-115079210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182748604	chr8:115079229-115079230	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115077400-115083000	Enhancers	Dnd41	blood
2	chr8:115080600-115081200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:115080600-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:115080800-115081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:115080800-115081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:115081200-115081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:115081200-115086400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:115081400-115086400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:115081400-115089200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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