Variant report

Variant	nsv1023632
Chromosome Location	chr8:130767066-130777995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:130770327-130770527	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr8:130777299-130777413	MCF10A-Er-Src	breast:	n/a	chr8:130777400-130777409 chr8:130777401-130777408 chr8:130777401-130777409
3	MAFF	chr8:130773326-130773328	K562	blood:	n/a	n/a
4	MAFK	chr8:130773161-130773302	K562	blood:	n/a	chr8:130773192-130773203 chr8:130773193-130773204 chr8:130773192-130773203
5	MAZ	chr8:130777169-130777244	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:130775117-130775200	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:130775688-130775712	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr8:130773316-130773503	K562	blood:	n/a	n/a
9	SPI1	chr8:130773549-130773746	K562	blood:	n/a	chr8:130773662-130773675
10	SPI1	chr8:130773538-130773758	HL-60	blood:	n/a	chr8:130773662-130773675
11	STAT3	chr8:130769100-130769116	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130777382..130781561-chr8:130783248..130785671,3	K562	blood:

Variant related genes	Relation type
GSDMC	TF binding region

Extended variants
information (count: 383 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75385582	chr8:130767075-130767076	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142013771	chr8:130767113-130767114	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190076697	chr8:130767158-130767159	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182735760	chr8:130767168-130767169	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149695174	chr8:130767190-130767191	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577804050	chr8:130767203-130767204	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530235412	chr8:130767207-130767208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577803669	chr8:130767270-130767271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188272142	chr8:130767372-130767373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192005088	chr8:130767376-130767377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116437371	chr8:130767431-130767432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145440685	chr8:130767449-130767450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73406812	chr8:130767476-130767477	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183815285	chr8:130767479-130767480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574089826	chr8:130767481-130767482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546700661	chr8:130767484-130767485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564811418	chr8:130767520-130767521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563459026	chr8:130767573-130767574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532206702	chr8:130767623-130767624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550899831	chr8:130767645-130767646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569071534	chr8:130767682-130767683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563807736	chr8:130767724-130767725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143459239	chr8:130767775-130767776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531013369	chr8:130767843-130767844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566555580	chr8:130767876-130767877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189220878	chr8:130767955-130767956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115888571	chr8:130767967-130767968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12680164	chr8:130768004-130768005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146873027	chr8:130768018-130768019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557202093	chr8:130768077-130768078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1600931	chr8:130768078-130768079	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529186771	chr8:130768116-130768117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542988396	chr8:130768136-130768137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374061368	chr8:130768148-130768149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34913370	chr8:130768176-130768177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34850528	chr8:130768210-130768211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547245198	chr8:130768321-130768322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74913140	chr8:130768342-130768343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7821985	chr8:130768352-130768353	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs367727670	chr8:130768369-130768370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539871460	chr8:130768381-130768382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140746661	chr8:130768405-130768406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192304805	chr8:130768415-130768416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139496552	chr8:130768430-130768431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57820154	chr8:130768440-130768441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550252025	chr8:130768473-130768474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7822504	chr8:130768492-130768493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183468559	chr8:130768496-130768497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60890741	chr8:130768503-130768504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397960662	chr8:130768510-130768511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:155)

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
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
Acute myeloid leukemia	20729466	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
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
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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130765800-130779200	Weak transcription	Spleen	Spleen
2	chr8:130766000-130767200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:130766200-130770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130766600-130767400	Enhancers	NHEK	skin
5	chr8:130766600-130773400	Weak transcription	Esophagus	oesophagus
6	chr8:130766800-130771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130767000-130767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:130767200-130774800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:130767200-130780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:130767400-130773200	Weak transcription	NHEK	skin
11	chr8:130770000-130770200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:130771800-130776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:130773200-130776000	Strong transcription	NHEK	skin
14	chr8:130773400-130775000	Strong transcription	Esophagus	oesophagus
15	chr8:130774200-130774800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:130774800-130776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:130775000-130779600	Weak transcription	Esophagus	oesophagus
18	chr8:130776000-130776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:130776000-130777800	Weak transcription	NHEK	skin
20	chr8:130776400-130778800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:130776600-130780200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:130777800-130780000	Strong transcription	NHEK	skin

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