Variant report

Variant	nsv611880
Chromosome Location	chr8:110762913-110821596
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	ATF1	chr8:110794679-110794777	K562	blood:	n/a	n/a
2	BACH1	chr8:110777397-110777754	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:110819342-110819385	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:110791950-110792020	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:110813754-110813975	IMR90	lung:	n/a	n/a
6	CTCF	chr8:110776840-110776990	WI-38	lung:	n/a	n/a
7	CTCF	chr8:110820592-110820644	MCF-7	breast:	n/a	chr8:110820614-110820635 chr8:110820612-110820630
8	CTCF	chr8:110820580-110820670	MCF-7	breast:	n/a	chr8:110820614-110820635 chr8:110820612-110820630
9	CTCF	chr8:110776840-110776990	GM12866	blood:	n/a	n/a
10	CTCF	chr8:110796447-110796465	GM10266	blood:	n/a	n/a
11	CTCF	chr8:110820608-110820639	MCF-7	breast:	n/a	chr8:110820614-110820635 chr8:110820612-110820630
12	CTCF	chr8:110820476-110820692	GM12878	blood:	n/a	chr8:110820614-110820635 chr8:110820612-110820630
13	E2F4	chr8:110772965-110772975	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr8:110799342-110799496	GM12878	blood:	n/a	chr8:110799482-110799493 chr8:110799389-110799398 chr8:110799389-110799399
15	FOXA1	chr8:110788714-110789007	HepG2	liver:	n/a	n/a
16	FOXP2	chr8:110808209-110808425	SK-N-MC	brain:	n/a	n/a
17	GATA3	chr8:110797140-110797394	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr8:110797015-110797475	MCF-7	breast:	n/a	n/a
19	JUND	chr8:110799075-110799359	HepG2	liver:	n/a	chr8:110799201-110799208 chr8:110799199-110799210 chr8:110799201-110799209
20	MAFF	chr8:110804110-110804255	HepG2	liver:	n/a	chr8:110804140-110804158
21	MAFK	chr8:110767677-110767768	HepG2	liver:	n/a	chr8:110767709-110767724
22	MAFK	chr8:110781973-110782101	HepG2	liver:	n/a	n/a
23	MAFK	chr8:110804028-110804291	HepG2	liver:	n/a	chr8:110804142-110804157
24	MAFK	chr8:110803985-110804281	HepG2	liver:	n/a	chr8:110804142-110804157
25	MAFK	chr8:110767657-110767737	HepG2	liver:	n/a	chr8:110767709-110767724
26	MAX	chr8:110809332-110809382	NB4	blood:	n/a	n/a
27	MXI1	chr8:110805763-110805930	Hela-S3	cervix:	n/a	n/a
28	MYC	chr8:110798549-110798556	MCF10A-Er-Src	breast:	n/a	n/a
29	NFYA	chr8:110795399-110795555	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:110795706-110795837	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:110767062-110767091	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:110782828-110782865	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr8:110767803-110767862	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:110808458-110808523	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:110790534-110790598	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:110808552-110808584	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:110782552-110782632	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr8:110799911-110800054	ProgFib	skin:	n/a	n/a
39	POLR2A	chr8:110788939-110788972	MCF-7	breast:	n/a	n/a
40	POLR2A	chr8:110772243-110772363	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:110770338-110770346	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:110798770-110798824	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr8:110812254-110812306	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr8:110777896-110778005	MCF-7	breast:	n/a	n/a
45	POLR2A	chr8:110775453-110775597	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr8:110777901-110778057	MCF-7	breast:	n/a	n/a
47	POLR2A	chr8:110778059-110778070	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:110801634-110801686	ProgFib	skin:	n/a	n/a
49	POLR2A	chr8:110778007-110778028	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:110776868-110776884	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:90819704..90820631-chr8:110819592..110820339,2	MCF-7	breast:
2	chr10:42528107..42529933-chr8:110778066..110779566,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255099	TF binding region

Extended variants
information (count: 729 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13266892	chr8:110762913-110762914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375331308	chr8:110762960-110762961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376316451	chr8:110762968-110762969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189104698	chr8:110762975-110762976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59231859	chr8:110762987-110762988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397687114	chr8:110762995-110762996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148036608	chr8:110763005-110763006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13265611	chr8:110763008-110763009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13267215	chr8:110763010-110763011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551078825	chr8:110763049-110763050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570985661	chr8:110763053-110763054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181001554	chr8:110763059-110763060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141710485	chr8:110763099-110763100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57837764	chr8:110763119-110763120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374257558	chr8:110763128-110763129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397788881	chr8:110763129-110763130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76715452	chr8:110763130-110763131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557829296	chr8:110763156-110763157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367922281	chr8:110763157-110763158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186328707	chr8:110763164-110763165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150561349	chr8:110763165-110763166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561950297	chr8:110763183-110763184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190396496	chr8:110763201-110763202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182720870	chr8:110763218-110763219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111949078	chr8:110763275-110763276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528478508	chr8:110763316-110763317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551629771	chr8:110763334-110763335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565358881	chr8:110763367-110763368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530857129	chr8:110763404-110763405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563014724	chr8:110763431-110763432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4734216	chr8:110763434-110763435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550018492	chr8:110763437-110763438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185916940	chr8:110763503-110763504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535392323	chr8:110763514-110763515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549247840	chr8:110763556-110763557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16879997	chr8:110763665-110763666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534586897	chr8:110763697-110763698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557463564	chr8:110763720-110763721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577332540	chr8:110763757-110763758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372685176	chr8:110763766-110763767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368662444	chr8:110763844-110763845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147358208	chr8:110763956-110763957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533671436	chr8:110763985-110763986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557135952	chr8:110764070-110764071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3102249	chr8:110764077-110764078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190728798	chr8:110764094-110764095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183711177	chr8:110764111-110764112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376643742	chr8:110764132-110764133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545371590	chr8:110764168-110764169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565246433	chr8:110764190-110764191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
lymphocytic leukemia	21291569	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
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
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110759400-110765000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:110761600-110765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110764200-110765400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:110764600-110765000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:110765000-110765200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:110765000-110765600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:110765400-110765600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:110776600-110778600	Enhancers	Fetal Intestine Large	intestine
9	chr8:110776800-110779400	Enhancers	Fetal Intestine Small	intestine
10	chr8:110777000-110778400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:110777200-110778200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr8:110777200-110778400	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:110777600-110778000	Enhancers	Pancreas	Pancrea
14	chr8:110777600-110778400	Enhancers	Adipose Nuclei	Adipose
15	chr8:110777800-110778400	Enhancers	Colonic Mucosa	Colon
16	chr8:110778400-110779200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:110779200-110779400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:110779400-110781800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:110780400-110781000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:110780400-110781000	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:110780600-110781000	Enhancers	Brain Anterior Caudate	brain
22	chr8:110782000-110782200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:110803600-110803800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:110803800-110804000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:110804000-110807000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:110807000-110808400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:110808000-110811800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:110815400-110816600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:110816600-110817000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:110817000-110817200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:110819000-110820200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:110819000-110821400	Enhancers	Fetal Heart	heart
33	chr8:110819600-110819800	Enhancers	Fetal Brain Male	brain
34	chr8:110820000-110821000	Weak transcription	Fetal Brain Male	brain
35	chr8:110820200-110823000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:110820600-110821800	Enhancers	Fetal Lung	lung
37	chr8:110821000-110823600	Enhancers	Fetal Brain Male	brain
38	chr8:110821400-110823200	Weak transcription	Fetal Heart	heart

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