Variant report

Variant	nsv611566
Chromosome Location	chr8:78126326-78245535
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	ARID3A	chr8:78140091-78140204	HepG2	liver:	n/a	n/a
2	BACH1	chr8:78237753-78237786	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:78232662-78232709	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr8:78156894-78157155	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr8:78222595-78223097	HCT-116	colon:	n/a	n/a
6	CEBPB	chr8:78145745-78146144	IMR90	lung:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
7	CEBPB	chr8:78137918-78138248	A549	lung:	n/a	chr8:78138091-78138102
8	CEBPB	chr8:78140004-78140332	HepG2	liver:	n/a	chr8:78140173-78140184
9	CEBPB	chr8:78145732-78146106	A549	lung:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
10	CEBPB	chr8:78145738-78146162	HepG2	liver:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
11	CEBPB	chr8:78156761-78157204	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:78185530-78185844	HepG2	liver:	n/a	chr8:78185697-78185708 chr8:78185696-78185709
13	CEBPB	chr8:78137929-78138130	Hela-S3	cervix:	n/a	chr8:78138091-78138102
14	CEBPB	chr8:78144692-78144955	A549	lung:	n/a	n/a
15	CEBPB	chr8:78185538-78185840	IMR90	lung:	n/a	chr8:78185697-78185708 chr8:78185696-78185709
16	CEBPB	chr8:78179208-78179408	HepG2	liver:	n/a	chr8:78179268-78179279 chr8:78179268-78179281
17	CEBPB	chr8:78145793-78146081	K562	blood:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
18	CEBPB	chr8:78145799-78146083	H1-hESC	embryonic stem cell:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
19	CEBPB	chr8:78137917-78138277	HepG2	liver:	n/a	chr8:78138091-78138102
20	CEBPB	chr8:78145756-78146143	Hela-S3	cervix:	n/a	chr8:78145908-78145917 chr8:78145987-78145998 chr8:78145908-78145919 chr8:78145908-78145917 chr8:78145908-78145917 chr8:78145906-78145919 chr8:78145989-78145998 chr8:78145908-78145917 chr8:78145906-78145919
21	CEBPB	chr8:78203436-78203528	HepG2	liver:	n/a	chr8:78203491-78203502
22	CEBPB	chr8:78140089-78140224	HepG2	liver:	n/a	chr8:78140173-78140184
23	CHD2	chr8:78156794-78157143	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr8:78222860-78223010	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr8:78176980-78177130	Caco-2	colon:	n/a	n/a
26	CTCF	chr8:78222565-78223148	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:78222820-78222970	GM12866	blood:	n/a	n/a
28	CTCF	chr8:78145056-78145099	GM13976	blood:	n/a	n/a
29	CTCF	chr8:78222820-78222970	HRE	kidney:	n/a	n/a
30	CTCF	chr8:78222820-78222970	HMF	breast:	n/a	n/a
31	CTCF	chr8:78222849-78222906	GM10266	blood:	n/a	n/a
32	CTCF	chr8:78222820-78222970	HAc	cerebellar:	n/a	n/a
33	CTCF	chr8:78222839-78222941	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr8:78222880-78223030	GM12868	blood:	n/a	n/a
35	CTCF	chr8:78222820-78222970	AG04450	lung:	n/a	n/a
36	CTCF	chr8:78222820-78222970	GM12872	blood:	n/a	n/a
37	CTCF	chr8:78222784-78223023	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr8:78222849-78222969	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:78222840-78222990	Caco-2	colon:	n/a	n/a
40	CTCF	chr8:78222840-78222990	BE2_C	brain:	n/a	n/a
41	CTCF	chr8:78222839-78222994	MCF-7	breast:	n/a	n/a
42	CTCF	chr8:78222860-78223010	GM12875	blood:	n/a	n/a
43	CTCF	chr8:78222840-78222990	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr8:78222840-78222990	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr8:78222820-78222970	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr8:78222760-78222910	HL-60	blood:	n/a	n/a
47	CTCF	chr8:78222762-78222995	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr8:78222840-78222990	BJ	skin:	n/a	n/a
49	CTCF	chr8:78222720-78222870	HVMF	connective:	n/a	n/a
50	CTCF	chr8:78154140-78154290	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:78161741..78164414-chr8:78166988..78168568,2	K562	blood:
2	chr8:78243789..78245338-chr8:78247285..78249942,2	K562	blood:
3	chr8:77279871..77280465-chr8:78222698..78223369,2	MCF-7	breast:
4	chr8:78161741..78164414-chr8:78166988..78168568,2	K562	blood:

Variant related genes	Relation type
ENSG00000222334	TF binding region

Extended variants
information (count: 1323 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10113289	chr8:78126326-78126327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573472467	chr8:78126339-78126340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35652407	chr8:78126367-78126368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10113394	chr8:78126396-78126397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575958506	chr8:78126451-78126452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375640036	chr8:78126458-78126459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564498142	chr8:78126502-78126503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529314786	chr8:78126503-78126504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79729619	chr8:78126507-78126508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75933992	chr8:78126509-78126510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73236347	chr8:78126701-78126702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547955104	chr8:78126746-78126747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16939460	chr8:78126765-78126766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533045484	chr8:78126832-78126833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17380962	chr8:78126838-78126839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569262194	chr8:78126853-78126854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192579362	chr8:78126867-78126868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377328838	chr8:78126872-78126873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548831239	chr8:78126878-78126879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574416467	chr8:78126913-78126914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547708890	chr8:78126932-78126933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62516984	chr8:78126945-78126946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571136758	chr8:78126946-78126947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184769907	chr8:78127016-78127017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35959554	chr8:78127028-78127029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539884076	chr8:78127055-78127056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558288919	chr8:78127060-78127061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367613737	chr8:78127078-78127079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530189522	chr8:78127112-78127113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112126979	chr8:78127122-78127123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35251869	chr8:78127123-78127124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543853207	chr8:78127135-78127136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562099493	chr8:78127148-78127149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187539794	chr8:78127219-78127220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142139075	chr8:78127222-78127223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537052044	chr8:78127230-78127231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541409485	chr8:78127249-78127250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550044093	chr8:78127344-78127345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571488997	chr8:78127359-78127360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538808619	chr8:78127378-78127379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192132687	chr8:78127414-78127415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571928829	chr8:78127433-78127434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184298558	chr8:78127441-78127442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563059178	chr8:78127474-78127475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530551596	chr8:78127494-78127495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548546094	chr8:78127529-78127530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190027470	chr8:78127537-78127538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1377253	chr8:78127571-78127572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181197157	chr8:78127575-78127576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575987446	chr8:78127584-78127585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78125400-78126400	Enhancers	Fetal Heart	heart
2	chr8:78126400-78128800	Weak transcription	Fetal Heart	heart
3	chr8:78128800-78129200	Enhancers	Fetal Heart	heart
4	chr8:78129200-78130200	Weak transcription	Fetal Heart	heart
5	chr8:78130200-78130800	Enhancers	Fetal Heart	heart
6	chr8:78132400-78133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:78137000-78137400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:78139600-78140000	Enhancers	HepG2	liver
9	chr8:78156600-78158200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:78156800-78157000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:78156800-78157200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:78157000-78157400	Enhancers	Hela-S3	cervix
13	chr8:78157000-78157400	Enhancers	Osteobl	bone
14	chr8:78157200-78159200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:78158800-78160000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:78158800-78160200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:78159000-78159400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:78159000-78159400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:78159200-78159600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:78159200-78159600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:78159400-78160000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:78159600-78159800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:78159800-78160800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:78164200-78164600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:78171600-78172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:78171600-78172000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:78171600-78172000	Enhancers	Brain Germinal Matrix	brain
28	chr8:78171600-78172200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:78180800-78181200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:78192800-78193600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:78193400-78194000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:78193600-78194000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:78205800-78206800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:78206000-78207000	Enhancers	HUVEC	blood vessel
35	chr8:78206800-78207000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:78207000-78207200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:78207000-78207400	Flanking Active TSS	HUVEC	blood vessel
38	chr8:78207000-78207800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:78207200-78207400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:78207400-78208000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:78207400-78208200	Enhancers	HUVEC	blood vessel
42	chr8:78207800-78213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:78208000-78212200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:78208200-78212200	Weak transcription	HUVEC	blood vessel
45	chr8:78212200-78213800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:78212200-78213800	Enhancers	HUVEC	blood vessel
47	chr8:78212600-78213600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:78213000-78213800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:78213800-78214800	Weak transcription	HUVEC	blood vessel
50	chr8:78213800-78220600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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