Variant report

Variant	esv1814154
Chromosome Location	chr8:114565816-114593036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150045798..150047502-chr8:114590956..114592459,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549159358	chr8:114569843-114569844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188435764	chr8:114569844-114569845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528432287	chr8:114569890-114569891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551381398	chr8:114569953-114569954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189993513	chr8:114569958-114569959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536930771	chr8:114569970-114569971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60296772	chr8:114569984-114569985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182448557	chr8:114569996-114569997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150286747	chr8:114569998-114569999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371067762	chr8:114570002-114570003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552753762	chr8:114570010-114570011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137926802	chr8:114570033-114570034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142419439	chr8:114570270-114570271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548328060	chr8:114570271-114570272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187169497	chr8:114570307-114570308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377070634	chr8:114570355-114570356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575348266	chr8:114570379-114570380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543753345	chr8:114570413-114570414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371702766	chr8:114570420-114570421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564059337	chr8:114570449-114570450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574107029	chr8:114570563-114570564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574294632	chr8:114571438-114571439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34615177	chr8:114571440-114571441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554650180	chr8:114571470-114571471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559504338	chr8:114571485-114571486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184133119	chr8:114571571-114571572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545095414	chr8:114571598-114571599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565040941	chr8:114571600-114571601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59854563	chr8:114571607-114571608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188851150	chr8:114571630-114571631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560998582	chr8:114571631-114571632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180671492	chr8:114571648-114571649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546952370	chr8:114571662-114571663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142348667	chr8:114571667-114571668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72263269	chr8:114571668-114571669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566664649	chr8:114571675-114571676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59322998	chr8:114571686-114571687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200198493	chr8:114571687-114571688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200996634	chr8:114571690-114571691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371689614	chr8:114571737-114571738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151241274	chr8:114571759-114571760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78508632	chr8:114571770-114571771	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114569800-114570200	Enhancers	Fetal Brain Male	brain
2	chr8:114569800-114570600	Enhancers	Dnd41	blood
3	chr8:114571400-114571800	Enhancers	HUES48 Cell Line	embryonic stem cell

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