Variant report

Variant	nsv1019760
Chromosome Location	chr8:51628619-51862150
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	BACH1	chr8:51760452-51760813	K562	blood:	n/a	n/a
2	BACH1	chr8:51760453-51760811	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr8:51771806-51771914	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:51767482-51767716	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:51741395-51741592	K562	blood:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
6	CEBPB	chr8:51658383-51658644	IMR90	lung:	n/a	chr8:51658514-51658525
7	CEBPB	chr8:51774506-51774533	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr8:51629219-51629277	IMR90	lung:	n/a	chr8:51629252-51629261 chr8:51629250-51629261
9	CEBPB	chr8:51754975-51755240	IMR90	lung:	n/a	n/a
10	CEBPB	chr8:51741473-51741716	IMR90	lung:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
11	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
12	CEBPB	chr8:51741406-51741719	A549	lung:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
13	CEBPB	chr8:51647559-51647802	HepG2	liver:	n/a	chr8:51647683-51647694
14	CEBPB	chr8:51741424-51741726	HepG2	liver:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
15	CEBPB	chr8:51741486-51741631	H1-hESC	embryonic stem cell:	n/a	chr8:51741562-51741573 chr8:51741528-51741539
16	CEBPB	chr8:51658455-51658661	HepG2	liver:	n/a	chr8:51658514-51658525
17	CEBPB	chr8:51647578-51647778	K562	blood:	n/a	chr8:51647683-51647694
18	CEBPB	chr8:51647599-51647828	IMR90	lung:	n/a	chr8:51647683-51647694
19	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
20	CEBPB	chr8:51755059-51755254	HepG2	liver:	n/a	n/a
21	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr8:51733412-51733627	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
24	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
25	CEBPB	chr8:51755011-51755229	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:51775680-51775830	GM12871	blood:	n/a	n/a
27	CTCF	chr8:51787374-51787445	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr8:51721560-51721710	GM12865	blood:	n/a	n/a
29	CTCF	chr8:51721420-51721570	MCF-7	breast:	n/a	n/a
30	CTCF	chr8:51721440-51721590	HRE	kidney:	n/a	n/a
31	CTCF	chr8:51721520-51721670	HMF	breast:	n/a	n/a
32	CTCF	chr8:51721640-51721790	GM12866	blood:	n/a	n/a
33	CTCF	chr8:51653842-51653896	LNCaP	prostate:	n/a	n/a
34	CTCF	chr8:51721600-51721750	AG04450	lung:	n/a	n/a
35	CTCF	chr8:51721540-51721690	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr8:51696214-51696270	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:51640800-51640950	MCF-7	breast:	n/a	chr8:51640877-51640884
38	CTCF	chr8:51721564-51721657	K562	blood:	n/a	n/a
39	CTCF	chr8:51721500-51721650	GM12871	blood:	n/a	n/a
40	CTCF	chr8:51810500-51810650	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr8:51721540-51721690	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr8:51745488-51745606	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:51721580-51721730	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr8:51797620-51797770	HepG2	liver:	n/a	n/a
46	CTCF	chr8:51721560-51721710	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr8:51745465-51745644	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:51640813-51640910	MCF-7	breast:	n/a	chr8:51640877-51640884
49	CTCF	chr8:51721480-51721630	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr8:51640780-51640930	MCF-7	breast:	n/a	chr8:51640877-51640884

No.	Distal block	Cell Line	Cell type
1	chr8:51677159..51678716-chr8:51680516..51682123,2	K562	blood:
2	chr8:51700925..51703034-chr8:51706252..51708028,2	K562	blood:
3	chr8:51700925..51703034-chr8:51706252..51708028,2	K562	blood:
4	chr8:51711545..51713227-chr8:51715658..51718026,2	K562	blood:
5	chr8:51715941..51718504-chr8:51718568..51721133,2	K562	blood:
6	chr8:51677159..51678716-chr8:51680516..51682123,2	K562	blood:
7	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
8	chr8:51715941..51718504-chr8:51718568..51721133,2	K562	blood:
9	chr8:51767065..51768781-chr8:51770684..51773527,2	MCF-7	breast:
10	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
11	chr8:51711545..51713227-chr8:51715658..51718026,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PXDNL-4	chr8:51675020-51675358	NONHSAT126529
2	lnc-SNTG1-2	chr8:51772090-51772622	NONHSAT126530

Variant related genes	Relation type
CYCSP22	TF binding region
ENSG00000253340	TF binding region
ENSG00000253340	chromatin interactions

Extended variants
information (count: 3803 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3803 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371981401	chr8:51628667-51628668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575097028	chr8:51628776-51628777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13271305	chr8:51628836-51628837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73678634	chr8:51628846-51628847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371734403	chr8:51628851-51628852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190566868	chr8:51628915-51628916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540570694	chr8:51628928-51628929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565029091	chr8:51628958-51628959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532372058	chr8:51628961-51628962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13264295	chr8:51628969-51628970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563758349	chr8:51628983-51628984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530939017	chr8:51629003-51629004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145518611	chr8:51629032-51629033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573635139	chr8:51629039-51629040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567594418	chr8:51629070-51629071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368334171	chr8:51629082-51629083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546892656	chr8:51629100-51629101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571479834	chr8:51629111-51629112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538862679	chr8:51629131-51629132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180791155	chr8:51629174-51629175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75867517	chr8:51629191-51629192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372054057	chr8:51629240-51629241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542899902	chr8:51629262-51629263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559891710	chr8:51629271-51629272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5891386	chr8:51629293-51629294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398007761	chr8:51629304-51629305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139429507	chr8:51629305-51629306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202105824	chr8:51629306-51629307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186081597	chr8:51629329-51629330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575600642	chr8:51629347-51629348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572757383	chr8:51629356-51629357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540482763	chr8:51629373-51629374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558910259	chr8:51629381-51629382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577247052	chr8:51629385-51629386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544738477	chr8:51629389-51629390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544400502	chr8:51629393-51629394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561230417	chr8:51629442-51629443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113275733	chr8:51629460-51629461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189517555	chr8:51629497-51629498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531025749	chr8:51629518-51629519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542765271	chr8:51629539-51629540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200598865	chr8:51629559-51629560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377562494	chr8:51629560-51629561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181162520	chr8:51629576-51629577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528796878	chr8:51629587-51629588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185709521	chr8:51629593-51629594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546855688	chr8:51629632-51629633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190475741	chr8:51629639-51629640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375383399	chr8:51629644-51629645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183200088	chr8:51629739-51629740	Weak transcription	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51608000-51648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51630600-51631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51630800-51631200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51631200-51633800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51631600-51633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:51633600-51634200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:51633600-51634600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:51633800-51634600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:51634200-51637200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:51634600-51640000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:51634600-51640000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:51639200-51642400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:51640000-51640400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:51640000-51640600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:51642400-51643200	Enhancers	Brain Germinal Matrix	brain
16	chr8:51648800-51649200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:51654800-51655000	Enhancers	Dnd41	blood
18	chr8:51665400-51665800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:51665400-51665800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:51669000-51670400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:51670400-51671000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:51673800-51674000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:51674000-51682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:51682800-51685600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:51683200-51685800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr8:51684000-51684800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr8:51684800-51686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:51702000-51703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:51705000-51716800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:51716600-51717600	ZNF genes & repeats	Liver	Liver
31	chr8:51716800-51717400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:51720600-51721000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:51728200-51729400	Enhancers	Fetal Brain Female	brain
34	chr8:51728600-51729000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:51737400-51737600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:51737600-51740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:51745200-51745400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:51745400-51745600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:51745400-51745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:51745600-51746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:51749200-51749400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:51750800-51751800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:51750800-51752200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:51750800-51752200	Enhancers	Dnd41	blood
45	chr8:51750800-51752400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:51751000-51751400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:51751000-51752000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:51751000-51752000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:51751000-51752200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:51751200-51752000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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