Variant report

Variant	nsv890898
Chromosome Location	chr8:52579964-52680933
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	chr8:52612844-52613230	K562	blood:	n/a	n/a
2	BCL3	chr8:52660384-52660895	GM12878	blood:	n/a	n/a
3	BCL3	chr8:52613030-52613525	GM12878	blood:	n/a	n/a
4	BCL3	chr8:52609136-52609434	GM12878	blood:	n/a	n/a
5	BCL3	chr8:52609072-52609394	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:52635867-52636089	K562	blood:	n/a	n/a
7	BRCA1	chr8:52628039-52628043	GM12878	blood:	n/a	n/a
8	CEBPB	chr8:52640539-52640862	HepG2	liver:	n/a	chr8:52640569-52640582
9	CEBPB	chr8:52643784-52644027	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr8:52651374-52651425	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:52665511-52665900	A549	lung:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
12	CEBPB	chr8:52665547-52665913	A549	lung:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
13	CEBPB	chr8:52665520-52665866	H1-hESC	embryonic stem cell:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
14	CEBPB	chr8:52665515-52665897	IMR90	lung:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
15	CEBPB	chr8:52665516-52665894	K562	blood:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
16	CEBPB	chr8:52665491-52665916	A549	lung:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
17	CEBPB	chr8:52665524-52665888	HepG2	liver:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
18	CEBPB	chr8:52640517-52640861	A549	lung:	n/a	chr8:52640569-52640582
19	CEBPB	chr8:52580213-52580700	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr8:52591935-52592135	HepG2	liver:	n/a	n/a
21	CEBPB	chr8:52672858-52672978	K562	blood:	n/a	n/a
22	CEBPB	chr8:52640521-52640910	Hela-S3	cervix:	n/a	chr8:52640569-52640582
23	CEBPB	chr8:52665517-52665900	Hela-S3	cervix:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
24	CEBPB	chr8:52628543-52628605	HepG2	liver:	n/a	chr8:52628577-52628590 chr8:52628577-52628588
25	CEBPB	chr8:52640539-52640835	IMR90	lung:	n/a	chr8:52640569-52640582
26	CEBPB	chr8:52665515-52665897	MCF-7	breast:	n/a	chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665703-52665712 chr8:52665701-52665712
27	CEBPB	chr8:52628431-52628893	Hela-S3	cervix:	n/a	chr8:52628577-52628590 chr8:52628577-52628588
28	CHD2	chr8:52580366-52580590	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr8:52612343-52612867	GM12878	blood:	n/a	n/a
30	CREB1	chr8:52640509-52640845	GM12878	blood:	n/a	n/a
31	CTCF	chr8:52631020-52631170	HPF	lung:	n/a	n/a
32	CTCF	chr8:52630920-52631070	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr8:52631080-52631230	HMF	breast:	n/a	n/a
34	CTCF	chr8:52643920-52644070	BE2_C	brain:	n/a	n/a
35	CTCF	chr8:52631240-52631390	GM12864	blood:	n/a	n/a
36	CTCF	chr8:52631080-52631230	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr8:52631280-52631430	NHEK	skin:	n/a	n/a
38	CTCF	chr8:52643920-52644121	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr8:52609180-52609237	MCF-7	breast:	n/a	n/a
40	CTCF	chr8:52631082-52631154	ProgFib	skin:	n/a	n/a
41	CTCF	chr8:52631080-52631230	GM12871	blood:	n/a	n/a
42	CTCF	chr8:52643980-52644130	HepG2	liver:	n/a	n/a
43	CTCF	chr8:52604280-52604430	HRE	kidney:	n/a	chr8:52604379-52604392 chr8:52604376-52604394 chr8:52604378-52604399
44	CTCF	chr8:52631100-52631250	GM12867	blood:	n/a	n/a
45	CTCF	chr8:52631140-52631290	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr8:52631000-52631150	HMF	breast:	n/a	n/a
47	CTCF	chr8:52604300-52604450	MCF-7	breast:	n/a	chr8:52604379-52604392 chr8:52604376-52604394 chr8:52604378-52604399
48	CTCF	chr8:52631060-52631210	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr8:52631060-52631210	HEK293	kidney:	n/a	n/a
50	CTCF	chr8:52631020-52631170	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:52604100..52604750-chr8:52722581..52723496,2	MCF-7	breast:
2	chr8:52599489..52601349-chr8:52604445..52607376,2	K562	blood:
3	chr8:52599489..52601349-chr8:52604445..52607376,2	K562	blood:
4	chr8:52592569..52595568-chr9:132255315..132257496,2	MCF-7	breast:
5	chr8:52638232..52640953-chr8:52662899..52665475,2	MCF-7	breast:
6	chr8:52638232..52640953-chr8:52662899..52665475,2	MCF-7	breast:
7	chr8:52639137..52641125-chr8:52641198..52643184,2	K562	blood:
8	chr8:52652822..52654740-chr8:52669387..52671490,2	MCF-7	breast:
9	chr8:52639137..52641125-chr8:52641198..52643184,2	K562	blood:
10	chr8:52652822..52654740-chr8:52669387..52671490,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCMTD1-2	chr8:52634230-52634724	NONHSAT126535

Variant related genes	Relation type
ENSG00000254225	TF binding region
ENSG00000272076	chromatin interactions

Extended variants
information (count: 3661 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3661 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4471027	chr8:52579964-52579965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181174936	chr8:52579977-52579978	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549082092	chr8:52579990-52579991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145127756	chr8:52579996-52579997	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117100727	chr8:52580024-52580025	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186009581	chr8:52580036-52580037	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111870899	chr8:52580045-52580046	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77368044	chr8:52580046-52580047	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568241826	chr8:52580056-52580057	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16916697	chr8:52580139-52580140	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191500437	chr8:52580176-52580177	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16916698	chr8:52580215-52580216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555866034	chr8:52580218-52580219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567415469	chr8:52580234-52580235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573859762	chr8:52580235-52580236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4383954	chr8:52580279-52580280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541276350	chr8:52580331-52580332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559678566	chr8:52580333-52580334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533225951	chr8:52580337-52580338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs80241018	chr8:52580396-52580397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563106783	chr8:52580493-52580494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536571576	chr8:52580504-52580505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373782679	chr8:52580537-52580538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111515638	chr8:52580552-52580553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530542420	chr8:52580565-52580566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs367931285	chr8:52580566-52580567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548787711	chr8:52580576-52580577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74722721	chr8:52580597-52580598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529442432	chr8:52580671-52580672	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs547624923	chr8:52580708-52580709	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184104859	chr8:52580719-52580720	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539717118	chr8:52580734-52580735	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs71550279	chr8:52580736-52580737	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188606353	chr8:52580755-52580756	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573022715	chr8:52580865-52580866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538924245	chr8:52580882-52580883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558424390	chr8:52580883-52580884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546454513	chr8:52580898-52580899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151227305	chr8:52580907-52580908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191033259	chr8:52580941-52580942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555578610	chr8:52580949-52580950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574228148	chr8:52580955-52580956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10090358	chr8:52580963-52580964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs113825922	chr8:52580986-52580987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559138508	chr8:52580987-52580988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553154710	chr8:52580991-52580992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577931347	chr8:52580994-52580995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182467918	chr8:52581017-52581018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145655625	chr8:52581085-52581086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138208069	chr8:52581101-52581102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52566400-52580800	Weak transcription	Aorta	Aorta
2	chr8:52577800-52580200	Weak transcription	Psoas Muscle	Psoas
3	chr8:52577800-52580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:52578000-52580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:52578600-52580600	Enhancers	Fetal Heart	heart
6	chr8:52578600-52580800	Enhancers	Right Atrium	heart
7	chr8:52578800-52580600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:52579200-52580200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52579200-52580600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:52579200-52581000	Enhancers	Left Ventricle	heart
11	chr8:52579400-52580200	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:52579600-52580000	Enhancers	NH-A	brain
13	chr8:52579600-52580400	Enhancers	Hela-S3	cervix
14	chr8:52579800-52580200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:52579800-52580400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:52579800-52580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:52579800-52580400	Enhancers	Fetal Kidney	kidney
18	chr8:52579800-52580400	Weak transcription	Right Ventricle	heart
19	chr8:52579800-52580600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:52579800-52580600	Enhancers	Fetal Lung	lung
21	chr8:52579800-52580800	Enhancers	Adipose Nuclei	Adipose
22	chr8:52580000-52580400	Flanking Active TSS	NH-A	brain
23	chr8:52580200-52580400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:52580200-52580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:52580200-52580600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:52580200-52580600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:52580200-52580600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:52580200-52580600	Enhancers	Psoas Muscle	Psoas
29	chr8:52580200-52580600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:52580200-52580600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:52580200-52580800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:52580200-52581000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:52580200-52582400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:52580400-52580600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:52580400-52580600	Flanking Active TSS	Hela-S3	cervix
36	chr8:52580600-52580800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:52580600-52580800	Active TSS	Hela-S3	cervix
38	chr8:52580600-52581200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:52580600-52585400	Weak transcription	Fetal Lung	lung
40	chr8:52580600-52585800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:52580600-52586000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:52580800-52581000	Enhancers	Aorta	Aorta
43	chr8:52580800-52581000	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:52580800-52581200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:52580800-52598800	Weak transcription	Right Atrium	heart
46	chr8:52581000-52584200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:52581000-52584200	Weak transcription	Left Ventricle	heart
48	chr8:52582400-52583200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:52583200-52583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:52583400-52589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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