Variant report

Variant	nsv981893
Chromosome Location	chr8:122233116-122236223
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	chr8:122232119..122234816-chr8:122249979..122252637,2	MCF-7	breast:
2	chr8:122229339..122231362-chr8:122234553..122236615,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541794978	chr8:122233131-122233132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560404431	chr8:122233144-122233145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574278103	chr8:122233145-122233146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541432139	chr8:122233212-122233213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1504642	chr8:122233264-122233265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530456686	chr8:122233279-122233280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79218071	chr8:122233334-122233335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76788989	chr8:122233353-122233354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367786413	chr8:122233361-122233362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564214297	chr8:122233380-122233381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141601397	chr8:122233381-122233382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150902109	chr8:122233406-122233407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115825150	chr8:122233420-122233421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376161816	chr8:122233425-122233426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566606220	chr8:122233438-122233439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535765122	chr8:122233497-122233498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549075552	chr8:122233532-122233533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566299953	chr8:122233570-122233571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569222138	chr8:122233597-122233598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537877270	chr8:122233685-122233686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368156806	chr8:122233694-122233695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114274213	chr8:122233701-122233702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61298029	chr8:122233768-122233769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113711448	chr8:122233777-122233778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554366337	chr8:122233783-122233784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7003374	chr8:122233784-122233785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543289439	chr8:122233825-122233826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73707558	chr8:122233843-122233844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2656121	chr8:122233922-122233923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544263785	chr8:122233933-122233934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564127490	chr8:122233948-122233949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533066738	chr8:122233969-122233970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540403767	chr8:122233986-122233987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117769350	chr8:122233995-122233996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564048368	chr8:122234054-122234055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78652161	chr8:122234100-122234101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116762518	chr8:122234107-122234108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112827572	chr8:122234163-122234164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569105559	chr8:122234208-122234209	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184222175	chr8:122234219-122234220	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149608651	chr8:122234242-122234243	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140580881	chr8:122234267-122234268	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188772619	chr8:122234270-122234271	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10505395	chr8:122234276-122234277	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189870960	chr8:122234333-122234334	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567824325	chr8:122234368-122234369	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536491154	chr8:122234374-122234375	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147171980	chr8:122234384-122234385	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2202381	chr8:122234417-122234418	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs568291304	chr8:122234428-122234429	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
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
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122232600-122234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:122233600-122235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:122234200-122235000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:122234200-122235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:122234200-122235400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:122234400-122235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:122234400-122235200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:122234800-122235400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:122235000-122236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:122235000-122239200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:122235400-122236000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:122235400-122239400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:122236000-122240200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:122236200-122236400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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