Variant report

Variant	nsv611449
Chromosome Location	chr8:65511032-65543401
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	chr8:65527239-65527310	K562	blood:	n/a	n/a
2	ATF2	chr8:65542783-65543574	GM12878	blood:	n/a	n/a
3	ATF2	chr8:65542810-65543580	GM12878	blood:	n/a	n/a
4	BACH1	chr8:65522603-65522702	K562	blood:	n/a	n/a
5	BACH1	chr8:65522416-65522917	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr8:65542733-65543279	GM12878	blood:	n/a	chr8:65543094-65543105
7	BATF	chr8:65542724-65543539	GM12878	blood:	n/a	chr8:65543321-65543329 chr8:65543094-65543105
8	BCL11A	chr8:65514704-65515008	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr8:65542950-65543509	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:65542764-65543337	GM12878	blood:	n/a	n/a
11	BCL3	chr8:65542803-65543292	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:65542998-65543398	GM12878	blood:	n/a	n/a
13	CCNT2	chr8:65515182-65515375	K562	blood:	n/a	n/a
14	CEBPB	chr8:65512780-65512980	HepG2	liver:	n/a	chr8:65512825-65512838 chr8:65512825-65512836 chr8:65512825-65512838 chr8:65512825-65512838
15	CEBPB	chr8:65542721-65543410	GM12878	blood:	n/a	n/a
16	CEBPB	chr8:65512669-65512982	IMR90	lung:	n/a	chr8:65512825-65512838 chr8:65512825-65512836 chr8:65512825-65512838 chr8:65512825-65512838
17	CEBPB	chr8:65512811-65512923	A549	lung:	n/a	chr8:65512825-65512838 chr8:65512825-65512836 chr8:65512825-65512838 chr8:65512825-65512838
18	CHD2	chr8:65542964-65543525	GM12878	blood:	n/a	n/a
19	CTCF	chr8:65525560-65525710	HRPEpiC	eye:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
20	CTCF	chr8:65525560-65525710	GM12872	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
21	CTCF	chr8:65525600-65525750	GM12867	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
22	CTCF	chr8:65525640-65525790	GM12869	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661
23	CTCF	chr8:65525560-65525710	GM12871	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
24	CTCF	chr8:65525560-65525710	HBMEC	blood vessel:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
25	CTCF	chr8:65525579-65525755	GM12878	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
26	CTCF	chr8:65525555-65525716	SK-N-SH_RA	brain:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
27	CTCF	chr8:65525500-65525650	BE2_C	brain:	n/a	n/a
28	CTCF	chr8:65525500-65525650	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr8:65525540-65525690	HAc	cerebellar:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
30	CTCF	chr8:65525560-65525710	MCF-7	breast:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
31	CTCF	chr8:65525600-65525750	HL-60	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
32	CTCF	chr8:65525559-65525769	MCF-7	breast:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
33	CTCF	chr8:65540440-65540590	GM12865	blood:	n/a	n/a
34	CTCF	chr8:65525560-65525710	HFF	foreskin:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
35	CTCF	chr8:65525540-65525690	HMEC	breast:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
36	CTCF	chr8:65525580-65525730	Caco-2	colon:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
37	CTCF	chr8:65525500-65525650	RPTEC	kidney:	n/a	n/a
38	CTCF	chr8:65525496-65525855	A549	lung:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
39	CTCF	chr8:65533820-65533970	GM12873	blood:	n/a	n/a
40	CTCF	chr8:65525589-65525732	GM10266	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
41	CTCF	chr8:65525560-65525710	HMF	breast:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
42	CTCF	chr8:65525540-65525690	HEK293	kidney:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
43	CTCF	chr8:65525612-65525735	A549	lung:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
44	CTCF	chr8:65525577-65525734	LNCaP	prostate:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
45	CTCF	chr8:65525580-65525730	GM12872	blood:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
46	CTCF	chr8:65525580-65525730	HCPEpiC	choroid plexus:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
47	CTCF	chr8:65525540-65525690	AG09319	gingival:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
48	CTCF	chr8:65525577-65525758	MCF-7	breast:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659
49	CTCF	chr8:65525720-65525870	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr8:65525540-65525690	HBMEC	blood vessel:	n/a	chr8:65525645-65525658 chr8:65525643-65525661 chr8:65525638-65525659

Variant related genes	Relation type
CYP7B1	TF binding region

Extended variants
information (count: 1033 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16931343	chr8:65511032-65511033	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562617771	chr8:65511080-65511081	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545353706	chr8:65511095-65511096	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34162324	chr8:65511109-65511110	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182591446	chr8:65511118-65511119	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551400393	chr8:65511120-65511121	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566434526	chr8:65511156-65511157	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73689551	chr8:65511175-65511176	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549092875	chr8:65511179-65511180	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562186929	chr8:65511180-65511181	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187750328	chr8:65511278-65511279	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557568618	chr8:65511317-65511318	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140773851	chr8:65511357-65511358	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143194970	chr8:65511380-65511381	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371793723	chr8:65511390-65511391	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558171397	chr8:65511436-65511437	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572859314	chr8:65511458-65511459	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35368074	chr8:65511475-65511476	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540269997	chr8:65511534-65511535	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555437948	chr8:65511539-65511540	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191044141	chr8:65511543-65511544	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35450983	chr8:65511545-65511546	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182830018	chr8:65511572-65511573	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112041515	chr8:65511643-65511644	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78877867	chr8:65511691-65511692	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115474843	chr8:65511724-65511725	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545239887	chr8:65511733-65511734	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560476251	chr8:65511750-65511751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527281146	chr8:65511769-65511770	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549029711	chr8:65511782-65511783	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567357042	chr8:65511806-65511807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531401372	chr8:65511809-65511810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375386054	chr8:65511880-65511881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569387785	chr8:65511883-65511884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369408171	chr8:65511886-65511887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187474205	chr8:65511897-65511898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192946106	chr8:65511915-65511916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184730422	chr8:65511918-65511919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188008166	chr8:65511984-65511985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567746837	chr8:65511991-65511992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs207469300	chr8:65512004-65512005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573710363	chr8:65512006-65512007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192518399	chr8:65512029-65512030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556382996	chr8:65512040-65512041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146872790	chr8:65512041-65512042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111528038	chr8:65512044-65512045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546898052	chr8:65512047-65512048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377455832	chr8:65512053-65512054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113434040	chr8:65512071-65512072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542961920	chr8:65512085-65512086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	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
Disorders of sex development	21048976	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
Cancer	20164920	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
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
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
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Autism	20531469	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65499800-65553000	Weak transcription	Pancreas	Pancrea
2	chr8:65500600-65526800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:65503600-65514400	Weak transcription	Fetal Lung	lung
4	chr8:65503600-65538400	Weak transcription	Fetal Kidney	kidney
5	chr8:65504200-65512200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:65505800-65521400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:65506400-65513800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:65507400-65526400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:65507600-65520200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:65507800-65527200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:65509000-65514600	Weak transcription	Ovary	ovary
12	chr8:65509200-65516400	Weak transcription	Liver	Liver
13	chr8:65510000-65525400	Weak transcription	Esophagus	oesophagus
14	chr8:65510400-65511800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:65510400-65527400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:65510800-65513400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:65511000-65511200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr8:65511200-65511600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:65511600-65512000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:65511800-65516200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:65512000-65513000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:65512000-65514600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:65512200-65517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:65513200-65519000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:65514400-65514800	Strong transcription	Fetal Lung	lung
26	chr8:65514400-65515600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:65514600-65514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:65514600-65515000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:65514600-65515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:65514600-65515200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:65514600-65515200	Strong transcription	Ovary	ovary
32	chr8:65514600-65515400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:65514600-65515400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:65514800-65515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:65514800-65515800	Weak transcription	Fetal Lung	lung
36	chr8:65515000-65516200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:65515000-65516600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:65515000-65516800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:65515000-65517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:65515200-65517400	Weak transcription	Ovary	ovary
41	chr8:65515200-65517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:65515600-65516000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:65515600-65528200	Weak transcription	Brain Substantia Nigra	brain
44	chr8:65515800-65517200	Strong transcription	Fetal Lung	lung
45	chr8:65516000-65516600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:65516200-65516600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:65516200-65517600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:65516400-65517800	Strong transcription	Liver	Liver
49	chr8:65516600-65517400	Strong transcription	Brain Anterior Caudate	brain
50	chr8:65516600-65521800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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