Variant report

Variant	nsv1029524
Chromosome Location	chr8:47367842-47460933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:236)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:236 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:47368426-47368796	K562	blood:	n/a	n/a
2	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
3	CBX3	chr8:47416966-47417169	K562	blood:	n/a	n/a
4	CCNT2	chr8:47432567-47432751	K562	blood:	n/a	n/a
5	CEBPB	chr8:47374798-47374997	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:47447503-47447785	HepG2	liver:	n/a	chr8:47447623-47447634
7	CEBPB	chr8:47447545-47447780	A549	lung:	n/a	chr8:47447623-47447634
8	CEBPB	chr8:47433472-47433637	A549	lung:	n/a	chr8:47433563-47433574
9	CEBPB	chr8:47374682-47375049	MCF-7	breast:	n/a	n/a
10	CEBPB	chr8:47374691-47375010	IMR90	lung:	n/a	n/a
11	CEBPB	chr8:47368428-47368796	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr8:47433493-47433666	HepG2	liver:	n/a	chr8:47433563-47433574
13	CHD1	chr8:47368427-47368795	GM12878	blood:	n/a	n/a
14	CTCF	chr8:47399756-47400016	LNCaP	prostate:	n/a	n/a
15	CTCF	chr8:47399800-47399950	HMEC	breast:	n/a	n/a
16	CTCF	chr8:47399800-47399950	NB4	blood:	n/a	n/a
17	CTCF	chr8:47399820-47399970	GM12873	blood:	n/a	n/a
18	CTCF	chr8:47399820-47399970	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr8:47399820-47399970	GM12871	blood:	n/a	n/a
20	CTCF	chr8:47399759-47399939	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr8:47399860-47400010	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:47399820-47399970	SAEC	small airway:	n/a	n/a
23	CTCF	chr8:47399740-47399890	HEK293	kidney:	n/a	n/a
24	CTCF	chr8:47399800-47399950	HL-60	blood:	n/a	n/a
25	CTCF	chr8:47399820-47399970	HEK293	kidney:	n/a	n/a
26	CTCF	chr8:47399741-47400048	T-47D	breast:	n/a	n/a
27	CTCF	chr8:47399700-47399850	HMEC	breast:	n/a	n/a
28	CTCF	chr8:47399820-47399970	NHEK	skin:	n/a	n/a
29	CTCF	chr8:47399829-47399969	ProgFib	skin:	n/a	n/a
30	CTCF	chr8:47399821-47399968	HepG2	liver:	n/a	n/a
31	CTCF	chr8:47399918-47399925	Medullo	brain:	n/a	n/a
32	CTCF	chr8:47399845-47399919	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr8:47399800-47399950	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr8:47399818-47399932	HepG2	liver:	n/a	n/a
35	CTCF	chr8:47399800-47399950	RPTEC	kidney:	n/a	n/a
36	CTCF	chr8:47399829-47399956	Fibrobl	skin:	n/a	n/a
37	CTCF	chr8:47399780-47399930	HCFaa	heart:	n/a	n/a
38	CTCF	chr8:47399800-47399987	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr8:47399780-47399930	HCT-116	colon:	n/a	n/a
40	CTCF	chr8:47399890-47399908	A549	lung:	n/a	n/a
41	CTCF	chr8:47399761-47400027	Gliobla	brain:	n/a	n/a
42	CTCF	chr8:47399720-47399870	A549	lung:	n/a	n/a
43	CTCF	chr8:47399717-47399960	A549	lung:	n/a	n/a
44	CTCF	chr8:47399820-47399970	HMF	breast:	n/a	n/a
45	CTCF	chr8:47399829-47399938	K562	blood:	n/a	n/a
46	CTCF	chr8:47399800-47399950	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:47399880-47400030	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr8:47399559-47400117	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr8:47399760-47399910	GM06990	blood:	n/a	n/a
50	CTCF	chr8:47399820-47399970	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:47152207..47152786-chr8:47399264..47399945,2	MCF-7	breast:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LINC00293-4	chr8:47460711-47460990	NONHSAT126406

No data

Variant related genes	Relation type
HSPA8P13	TF binding region

Extended variants
information (count: 4514 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4514 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187841046	chr8:47367845-47367846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573698559	chr8:47367870-47367871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375825442	chr8:47367871-47367872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537829808	chr8:47367878-47367879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191826021	chr8:47367905-47367906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139317601	chr8:47367910-47367911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12679379	chr8:47367923-47367924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528776464	chr8:47367930-47367931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148632668	chr8:47367935-47367936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568532369	chr8:47367992-47367993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534380643	chr8:47368005-47368006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371861017	chr8:47368007-47368008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs4242448	chr8:47368042-47368043	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529469132	chr8:47368062-47368063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183550051	chr8:47368080-47368081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569364945	chr8:47368115-47368116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551533000	chr8:47368131-47368132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114026450	chr8:47368140-47368141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188328234	chr8:47368166-47368167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571589404	chr8:47368177-47368178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533814413	chr8:47368314-47368315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577457893	chr8:47368334-47368335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554020928	chr8:47368346-47368347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539790994	chr8:47368350-47368351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536435563	chr8:47368369-47368370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555846588	chr8:47368371-47368372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs151142087	chr8:47368394-47368395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192444852	chr8:47368398-47368399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369116965	chr8:47368404-47368405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139403627	chr8:47368423-47368424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540596297	chr8:47368435-47368436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376292508	chr8:47368439-47368440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560838598	chr8:47368464-47368465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558084943	chr8:47368517-47368518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571775160	chr8:47368519-47368520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533029233	chr8:47368520-47368521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200304215	chr8:47368546-47368547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574193859	chr8:47368547-47368548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543166905	chr8:47368569-47368570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10109390	chr8:47368570-47368571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76230569	chr8:47368594-47368595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79262176	chr8:47368595-47368596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556174895	chr8:47368597-47368598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549651314	chr8:47368598-47368599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74764743	chr8:47368616-47368617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551816823	chr8:47368629-47368630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78406068	chr8:47368632-47368633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565314398	chr8:47368654-47368655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527665795	chr8:47368662-47368663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs547413311	chr8:47368673-47368674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Oral cancer	21386901	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
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47363600-47369200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr8:47368400-47368800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:47368600-47371200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:47370600-47373000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr8:47371600-47372400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:47372000-47379600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:47372600-47380800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr8:47376800-47377000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr8:47379600-47381000	ZNF genes & repeats	Liver	Liver
10	chr8:47381600-47382200	ZNF genes & repeats	Liver	Liver
11	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
16	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
21	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
25	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr8:47441200-47454400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:47443000-47444800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr8:47446000-47448200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr8:47446200-47447400	Active TSS	Fetal Heart	heart
37	chr8:47453400-47456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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