Variant report

Variant	nsv1032611
Chromosome Location	chr8:4887741-4957559
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	chr8:4919958-4920877	H1-hESC	embryonic stem cell:	n/a	chr8:4920685-4920699
2	BRCA1	chr8:4939017-4939022	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:4896225-4896485	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:4919840-4920158	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:4936602-4936943	K562	blood:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
6	CEBPB	chr8:4902837-4903107	HepG2	liver:	n/a	chr8:4902959-4902970
7	CEBPB	chr8:4936575-4936951	HepG2	liver:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
8	CEBPB	chr8:4919816-4920240	A549	lung:	n/a	n/a
9	CEBPB	chr8:4923935-4924191	IMR90	lung:	n/a	n/a
10	CEBPB	chr8:4936558-4936957	Hela-S3	cervix:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
11	CEBPB	chr8:4919843-4920188	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:4936578-4936942	IMR90	lung:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
13	CEBPB	chr8:4919806-4920163	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:4919071-4919152	HepG2	liver:	n/a	chr8:4919087-4919098
15	CEBPB	chr8:4936578-4936933	A549	lung:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
16	CEBPB	chr8:4936574-4936940	H1-hESC	embryonic stem cell:	n/a	chr8:4936759-4936768 chr8:4936759-4936768 chr8:4936757-4936770 chr8:4936759-4936768
17	CEBPB	chr8:4919832-4920159	A549	lung:	n/a	n/a
18	CEBPB	chr8:4923179-4924239	Hela-S3	cervix:	n/a	chr8:4923731-4923742 chr8:4923503-4923516 chr8:4923503-4923514
19	CEBPB	chr8:4923897-4924061	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr8:4923869-4924200	HepG2	liver:	n/a	n/a
21	CTCF	chr8:4920000-4920150	HEK293	kidney:	n/a	chr8:4920039-4920057
22	CTCF	chr8:4919960-4920110	HCM	heart:	n/a	chr8:4920039-4920057
23	CTCF	chr8:4919920-4920070	HRPEpiC	eye:	n/a	chr8:4920039-4920057
24	CTCF	chr8:4920180-4920330	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr8:4919954-4920135	Lung_OC	lung:	n/a	chr8:4920039-4920057
26	CTCF	chr8:4919929-4920146	GM12878	blood:	n/a	chr8:4920039-4920057
27	CTCF	chr8:4919940-4920090	GM12875	blood:	n/a	chr8:4920039-4920057
28	CTCF	chr8:4919940-4920090	GM12864	blood:	n/a	chr8:4920039-4920057
29	CTCF	chr8:4919920-4920070	GM12865	blood:	n/a	chr8:4920039-4920057
30	CTCF	chr8:4919960-4920110	HMF	breast:	n/a	chr8:4920039-4920057
31	CTCF	chr8:4919980-4920130	HVMF	connective:	n/a	chr8:4920039-4920057
32	CTCF	chr8:4919980-4920130	AG10803	skin:	n/a	chr8:4920039-4920057
33	CTCF	chr8:4919980-4920130	GM12871	blood:	n/a	chr8:4920039-4920057
34	CTCF	chr8:4919900-4920050	BJ	skin:	n/a	n/a
35	CTCF	chr8:4919920-4920070	NB4	blood:	n/a	chr8:4920039-4920057
36	CTCF	chr8:4919980-4920130	GM12872	blood:	n/a	chr8:4920039-4920057
37	CTCF	chr8:4919869-4920245	K562	blood:	n/a	chr8:4920039-4920057
38	CTCF	chr8:4920000-4920150	SAEC	small airway:	n/a	chr8:4920039-4920057
39	CTCF	chr8:4920020-4920170	HCT-116	colon:	n/a	chr8:4920039-4920057
40	CTCF	chr8:4919960-4920110	HPF	lung:	n/a	chr8:4920039-4920057
41	CTCF	chr8:4919962-4920116	Pancreas_OC	pancreas:	n/a	chr8:4920039-4920057
42	CTCF	chr8:4919960-4920110	GM12864	blood:	n/a	chr8:4920039-4920057
43	CTCF	chr8:4920000-4920150	HA-sp	spinal cord:	n/a	chr8:4920039-4920057
44	CTCF	chr8:4919980-4920130	GM12869	blood:	n/a	chr8:4920039-4920057
45	CTCF	chr8:4920060-4920210	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr8:4919948-4920146	MCF-7	breast:	n/a	chr8:4920039-4920057
47	CTCF	chr8:4919960-4920110	HCPEpiC	choroid plexus:	n/a	chr8:4920039-4920057
48	CTCF	chr8:4919960-4920110	BJ	skin:	n/a	chr8:4920039-4920057
49	CTCF	chr8:4919980-4920130	SK-N-SH_RA	brain:	n/a	chr8:4920039-4920057
50	CTCF	chr8:4919934-4920166	LNCaP	prostate:	n/a	chr8:4920039-4920057

No.	Distal block	Cell Line	Cell type
1	chr8:4914258..4917095-chr8:4917428..4919602,2	K562	blood:
2	chr8:4902858..4905778-chr8:4907306..4909304,2	K562	blood:
3	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
4	chr8:4919600..4920385-chr8:6687720..6688260,2	K562	blood:
5	chr8:4914258..4917095-chr8:4917428..4919602,2	K562	blood:
6	chr8:4898592..4901139-chr8:4902944..4904883,2	K562	blood:
7	chr8:4902858..4905778-chr8:4907306..4909304,2	K562	blood:
8	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
9	chr8:4898592..4901139-chr8:4902944..4904883,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-10	chr8:4930167-4930391	NONHSAT124752

Variant related genes	Relation type
ENSG00000253262	TF binding region

Extended variants
information (count: 1859 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1859 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563082440	chr8:4887808-4887809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530315404	chr8:4887828-4887829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548531300	chr8:4887834-4887835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117974341	chr8:4887835-4887836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191151874	chr8:4887839-4887840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149067739	chr8:4887870-4887871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570071769	chr8:4887904-4887905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71523655	chr8:4887906-4887907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145833375	chr8:4887920-4887921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558482773	chr8:4887929-4887930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556419234	chr8:4887939-4887940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62491983	chr8:4887960-4887961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182531063	chr8:4887991-4887992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187933036	chr8:4887992-4887993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572292925	chr8:4887995-4887996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540685913	chr8:4887999-4888000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550759052	chr8:4888018-4888019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118119964	chr8:4888063-4888064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577302409	chr8:4888078-4888079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544667102	chr8:4888080-4888081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143944913	chr8:4888083-4888084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147329017	chr8:4888091-4888092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542529161	chr8:4888094-4888095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560432092	chr8:4888098-4888099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13250671	chr8:4888099-4888100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551845519	chr8:4888105-4888106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116168960	chr8:4888126-4888127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531185907	chr8:4888158-4888159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370238296	chr8:4888177-4888178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549545370	chr8:4888180-4888181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568063850	chr8:4888188-4888189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535359766	chr8:4888195-4888196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554039305	chr8:4888205-4888206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574224364	chr8:4888208-4888209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539686996	chr8:4888215-4888216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76940289	chr8:4888222-4888223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192502882	chr8:4888243-4888244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544705488	chr8:4888266-4888267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543597909	chr8:4888278-4888279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556253997	chr8:4888285-4888286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183090802	chr8:4888301-4888302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542116170	chr8:4888313-4888314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187432150	chr8:4888345-4888346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116652958	chr8:4888351-4888352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59148971	chr8:4888377-4888378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112109076	chr8:4888380-4888381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531271851	chr8:4888414-4888415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549871071	chr8:4888415-4888416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141575822	chr8:4888435-4888436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78349734	chr8:4888456-4888457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4887800-4889800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:4889600-4889800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:4889800-4890000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:4889800-4890000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:4889800-4890200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:4889800-4890200	Enhancers	Spleen	Spleen
7	chr8:4889800-4890400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:4889800-4890400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4889800-4890400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:4889800-4890600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:4890000-4890200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:4890200-4890400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:4890200-4890400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:4890200-4890600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:4890400-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:4890400-4891600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:4890400-4892000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:4890400-4892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:4890600-4891800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:4890600-4891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:4890600-4892000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:4891600-4892200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:4891600-4892400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:4891600-4893000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:4891600-4893000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:4891800-4892000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:4891800-4892600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:4891800-4893200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:4892000-4892200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:4892000-4892800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:4892000-4893000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:4896200-4896800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:4896400-4896800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:4896400-4896800	Enhancers	Esophagus	oesophagus
35	chr8:4897800-4898200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:4908000-4909400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:4909400-4909800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:4909800-4910200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:4917400-4918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:4917400-4918600	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:4917600-4918200	Enhancers	Brain Hippocampus Middle	brain
42	chr8:4917800-4918200	Enhancers	Brain Anterior Caudate	brain
43	chr8:4918000-4918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:4918000-4918200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:4918000-4918600	Enhancers	Esophagus	oesophagus
46	chr8:4918200-4920200	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:4920000-4920200	Enhancers	Brain Anterior Caudate	brain
48	chr8:4920000-4920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:4920200-4920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:4920200-4920600	Enhancers	H1 Cell Line	embryonic stem cell

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