Variant report

Variant	nsv972567
Chromosome Location	chr8:113664277-113668400
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	chr8:113659187..113660730-chr8:113666931..113668583,2	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568608208	chr8:113664281-113664282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533745006	chr8:113664285-113664286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567977221	chr8:113664356-113664357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147476019	chr8:113664372-113664373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75378778	chr8:113664382-113664383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546102081	chr8:113664393-113664394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556068484	chr8:113664405-113664406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575617461	chr8:113664423-113664424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193200398	chr8:113664435-113664436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561448195	chr8:113664444-113664445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572113259	chr8:113664477-113664478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545762882	chr8:113664492-113664493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527516566	chr8:113664511-113664512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565272831	chr8:113664537-113664538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560755017	chr8:113664544-113664545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527722711	chr8:113664579-113664580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532664899	chr8:113664596-113664597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552880818	chr8:113664610-113664611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563207162	chr8:113664621-113664622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535888864	chr8:113664625-113664626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116756016	chr8:113664632-113664633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548648554	chr8:113664642-113664643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377318809	chr8:113664687-113664688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568414375	chr8:113664730-113664731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534308331	chr8:113664759-113664760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547239943	chr8:113664845-113664846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376928373	chr8:113664874-113664875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371131336	chr8:113664978-113664979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184709092	chr8:113664984-113664985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188674949	chr8:113665008-113665009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529814112	chr8:113665052-113665053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112750004	chr8:113665060-113665061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549571468	chr8:113665072-113665073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575977110	chr8:113665092-113665093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535040494	chr8:113665155-113665156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145351361	chr8:113665234-113665235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113834982	chr8:113665235-113665236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111582813	chr8:113665238-113665239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59155160	chr8:113665247-113665248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142450683	chr8:113665248-113665249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577350370	chr8:113665313-113665314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546458020	chr8:113665352-113665353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563172817	chr8:113665374-113665375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532045937	chr8:113665418-113665419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548561213	chr8:113665459-113665460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138656626	chr8:113665460-113665461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376013319	chr8:113665461-113665462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562127655	chr8:113665462-113665463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527713889	chr8:113665467-113665468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547855593	chr8:113665473-113665474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113636800-113680400	Weak transcription	HMEC	breast
3	chr8:113663400-113676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:113663600-113664400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:113664400-113666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:113666000-113666400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:113666400-113675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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