Variant report

Variant	nsv971254
Chromosome Location	chr8:111692143-111696111
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	chr8:111689286..111692174-chr8:111701872..111704181,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546423372	chr8:111692804-111692805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563037458	chr8:111692812-111692813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189950255	chr8:111692857-111692858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541936273	chr8:111692898-111692899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145390690	chr8:111692911-111692912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527675227	chr8:111692919-111692920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547726631	chr8:111692994-111692995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566430972	chr8:111693014-111693015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570209489	chr8:111693058-111693059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532243232	chr8:111693060-111693061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7819148	chr8:111693132-111693133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568698465	chr8:111693186-111693187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150947217	chr8:111693198-111693199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554365693	chr8:111693203-111693204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73326189	chr8:111693205-111693206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533563240	chr8:111693220-111693221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13256480	chr8:111693242-111693243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs13255968	chr8:111693246-111693247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556824171	chr8:111693276-111693277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371674359	chr8:111693277-111693278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149685530	chr8:111693306-111693307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371580883	chr8:111693311-111693312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534708920	chr8:111693337-111693338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541292407	chr8:111693347-111693348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545032550	chr8:111693371-111693372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35106893	chr8:111693386-111693387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542349125	chr8:111693405-111693406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140712064	chr8:111693482-111693483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199902598	chr8:111693488-111693489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200895431	chr8:111693489-111693490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572453577	chr8:111693495-111693496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183240851	chr8:111693496-111693497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112263234	chr8:111693497-111693498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35404862	chr8:111693500-111693501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564108652	chr8:111693544-111693545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559407632	chr8:111693572-111693573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532309709	chr8:111693638-111693639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552033348	chr8:111693688-111693689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574470912	chr8:111693710-111693711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531397604	chr8:111693765-111693766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548326745	chr8:111693773-111693774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376365830	chr8:111693812-111693813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568066790	chr8:111693815-111693816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533857919	chr8:111693817-111693818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188563832	chr8:111693821-111693822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36204615	chr8:111693897-111693898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200997761	chr8:111693904-111693905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567599540	chr8:111693906-111693907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570440320	chr8:111693919-111693920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540180861	chr8:111693940-111693941	Enhancers 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111692800-111694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111693400-111694200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:111694000-111694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:111694600-111695400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:111694800-111695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:111695400-111696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:111695400-111697400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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