Variant report

Variant	esv2540876
Chromosome Location	chr8:112021401-112022993
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	chr8:112020517..112022084-chr8:112022778..112025177,2	K562	blood:
2	chr8:112020517..112022084-chr8:112022778..112025177,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574196438	chr8:112021403-112021404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544495133	chr8:112021406-112021407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536509509	chr8:112021432-112021433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543681471	chr8:112021510-112021511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373471081	chr8:112021567-112021568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549102036	chr8:112021573-112021574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553262386	chr8:112021625-112021626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4493937	chr8:112021630-112021631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13277392	chr8:112021632-112021633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13277619	chr8:112021633-112021634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544653604	chr8:112021648-112021649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532311218	chr8:112021653-112021654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77491743	chr8:112021655-112021656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564632739	chr8:112021670-112021671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141436918	chr8:112021725-112021726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6415456	chr8:112021782-112021783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560892928	chr8:112021846-112021847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529916351	chr8:112021874-112021875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546528495	chr8:112021911-112021912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373205693	chr8:112021966-112021967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565332348	chr8:112021989-112021990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560476690	chr8:112022041-112022042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528483109	chr8:112022052-112022053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145144438	chr8:112022079-112022080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372768032	chr8:112022146-112022147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571747224	chr8:112022226-112022227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537121607	chr8:112022242-112022243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189038682	chr8:112022302-112022303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377155515	chr8:112022313-112022314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567720230	chr8:112022318-112022319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536857645	chr8:112022365-112022366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12542466	chr8:112022400-112022401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535552821	chr8:112022482-112022483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538234758	chr8:112022488-112022489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567632808	chr8:112022526-112022527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192671335	chr8:112022534-112022535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543939540	chr8:112022542-112022543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577929157	chr8:112022555-112022556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138974893	chr8:112022576-112022577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574541355	chr8:112022584-112022585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367826039	chr8:112022586-112022587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371117658	chr8:112022587-112022588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184957897	chr8:112022604-112022605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532476377	chr8:112022613-112022614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536570372	chr8:112022627-112022628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565244226	chr8:112022691-112022692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530943079	chr8:112022695-112022696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376197358	chr8:112022698-112022699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550752599	chr8:112022714-112022715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556887084	chr8:112022715-112022716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112011600-112035600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:112022600-112024200	Weak transcription	K562	blood

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