Variant report

Variant	nsv971602
Chromosome Location	chr8:112030554-112033006
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	chr8:112023343..112027872-chr8:112028215..112031579,4	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192986947	chr8:112030586-112030587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140722347	chr8:112030611-112030612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576979658	chr8:112030620-112030621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4617190	chr8:112030660-112030661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113980464	chr8:112030705-112030706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556188502	chr8:112030706-112030707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185128019	chr8:112030718-112030719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190408857	chr8:112030727-112030728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554629791	chr8:112030742-112030743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145362903	chr8:112030763-112030764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540352014	chr8:112030947-112030948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75738305	chr8:112030976-112030977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75667115	chr8:112030977-112030978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182283729	chr8:112031003-112031004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555262491	chr8:112031054-112031055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4130017	chr8:112031123-112031124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112623628	chr8:112031157-112031158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563078305	chr8:112031163-112031164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183854034	chr8:112031171-112031172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548235848	chr8:112031183-112031184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143332592	chr8:112031189-112031190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34384405	chr8:112031192-112031193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527346907	chr8:112031205-112031206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547524060	chr8:112031240-112031241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139181677	chr8:112031267-112031268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114169973	chr8:112031291-112031292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10088827	chr8:112031335-112031336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141646129	chr8:112031392-112031393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117639256	chr8:112031404-112031405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554983090	chr8:112031413-112031414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537828175	chr8:112031443-112031444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574329666	chr8:112031458-112031459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554517419	chr8:112031464-112031465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574510997	chr8:112031484-112031485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540280397	chr8:112031488-112031489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554017471	chr8:112031520-112031521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577356072	chr8:112031575-112031576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563366583	chr8:112031658-112031659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546113579	chr8:112031672-112031673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563173659	chr8:112031713-112031714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532013412	chr8:112031717-112031718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542556023	chr8:112031721-112031722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561626357	chr8:112031744-112031745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147037567	chr8:112031746-112031747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180788227	chr8:112031805-112031806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547466841	chr8:112031815-112031816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116889079	chr8:112031854-112031855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533136369	chr8:112031887-112031888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202165494	chr8:112031889-112031890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549739861	chr8:112031906-112031907	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:10 , 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	chr8:112023200-112039000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:112025000-112047800	Weak transcription	K562	blood
4	chr8:112030600-112031200	Enhancers	Brain Angular Gyrus	brain
5	chr8:112031200-112035200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:112032200-112032400	Enhancers	Brain Hippocampus Middle	brain
7	chr8:112032400-112032600	Enhancers	Brain Substantia Nigra	brain
8	chr8:112032400-112033200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:112032400-112033200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:112033000-112033200	Enhancers	Brain Inferior Temporal Lobe	brain

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