Variant report

Variant	nsv8381
Chromosome Location	chr8:119246082-119249941
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	chr8:119122977..119125363-chr8:119249195..119251345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118144347	chr8:119246107-119246108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112363702	chr8:119246117-119246118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186829511	chr8:119246130-119246131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7816518	chr8:119246150-119246151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537700812	chr8:119246230-119246231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7834777	chr8:119246248-119246249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570153653	chr8:119246251-119246252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534314049	chr8:119246359-119246360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552677548	chr8:119246406-119246407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574456624	chr8:119246407-119246408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546807272	chr8:119246414-119246415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191760841	chr8:119246441-119246442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184925751	chr8:119246487-119246488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546159996	chr8:119246493-119246494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564371901	chr8:119246549-119246550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532582431	chr8:119246566-119246567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78541698	chr8:119246571-119246572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78212691	chr8:119246575-119246576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559609928	chr8:119246581-119246582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149450022	chr8:119246591-119246592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548498756	chr8:119246611-119246612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71530897	chr8:119246686-119246687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537344002	chr8:119246715-119246716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557168625	chr8:119246778-119246779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371762736	chr8:119246840-119246841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571003653	chr8:119246856-119246857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539618079	chr8:119246874-119246875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530996636	chr8:119246891-119246892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552497399	chr8:119246898-119246899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374415284	chr8:119246929-119246930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374694284	chr8:119246945-119246946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558538818	chr8:119246949-119246950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200285980	chr8:119246950-119246951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398009553	chr8:119246968-119246969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370479870	chr8:119246969-119246970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570787171	chr8:119246993-119246994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190163907	chr8:119247074-119247075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368601202	chr8:119247156-119247157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568066920	chr8:119247250-119247251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11562795	chr8:119247304-119247305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556771735	chr8:119247352-119247353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372660851	chr8:119247442-119247443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62532664	chr8:119247452-119247453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74598437	chr8:119247454-119247455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77269172	chr8:119247455-119247456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138999900	chr8:119247456-119247457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201202959	chr8:119247457-119247458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575442780	chr8:119247460-119247461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181912764	chr8:119247542-119247543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28370832	chr8:119247586-119247587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
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
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	17603634	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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
2	chr8:119223800-119254800	Weak transcription	Gastric	stomach
3	chr8:119236600-119269200	Weak transcription	GM12878-XiMat	blood
4	chr8:119240600-119252600	Weak transcription	NHEK	skin
5	chr8:119242600-119248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:119243600-119249600	Weak transcription	Right Atrium	heart
7	chr8:119245200-119253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:119245200-119269800	Weak transcription	Aorta	Aorta
9	chr8:119246000-119246200	Enhancers	Ovary	ovary
10	chr8:119246200-119257000	Weak transcription	Ovary	ovary
11	chr8:119247000-119247800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:119247800-119248600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:119248000-119248400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:119248000-119248600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:119248800-119249800	Weak transcription	Left Ventricle	heart
16	chr8:119248800-119253200	Weak transcription	Liver	Liver
17	chr8:119249200-119250200	Enhancers	HSMMtube	muscle
18	chr8:119249600-119250000	Enhancers	Right Atrium	heart
19	chr8:119249800-119250000	Enhancers	Left Ventricle	heart

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