Variant report

Variant	nsv971603
Chromosome Location	chr8:112725991-112728247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550223890	chr8:112726003-112726004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570083234	chr8:112726010-112726011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535812986	chr8:112726023-112726024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370603161	chr8:112726086-112726087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187361543	chr8:112726090-112726091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566332066	chr8:112726104-112726105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535349883	chr8:112726175-112726176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189994510	chr8:112726221-112726222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182360692	chr8:112726303-112726304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12678873	chr8:112726365-112726366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74604702	chr8:112726378-112726379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547974640	chr8:112726403-112726404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139988273	chr8:112726442-112726443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542189673	chr8:112726451-112726452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558932155	chr8:112726469-112726470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528114437	chr8:112726481-112726482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542943206	chr8:112726502-112726503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545284957	chr8:112726503-112726504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143498135	chr8:112726555-112726556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530712537	chr8:112726559-112726560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560531947	chr8:112726571-112726572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115756780	chr8:112726585-112726586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58392766	chr8:112726599-112726600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529412259	chr8:112726656-112726657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13253133	chr8:112726701-112726702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531894347	chr8:112726713-112726714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114781021	chr8:112726717-112726718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534758378	chr8:112726733-112726734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552028893	chr8:112726735-112726736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571881114	chr8:112726778-112726779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112640340	chr8:112726787-112726788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557294544	chr8:112726790-112726791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11988586	chr8:112726814-112726815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76957292	chr8:112726818-112726819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76508755	chr8:112726848-112726849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551436959	chr8:112726880-112726881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572482511	chr8:112726907-112726908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544711013	chr8:112726915-112726916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571260216	chr8:112726919-112726920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565150095	chr8:112726921-112726922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575468906	chr8:112726964-112726965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10105047	chr8:112727065-112727066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561075250	chr8:112727158-112727159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529958441	chr8:112727161-112727162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10105260	chr8:112727184-112727185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567962196	chr8:112727203-112727204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559917783	chr8:112727237-112727238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs33964350	chr8:112727265-112727266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs367887301	chr8:112727338-112727339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571882756	chr8:112727341-112727342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112722600-112730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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