Variant report

Variant	nsv1029413
Chromosome Location	chr8:47382789-47458370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:47424515-47424559	GM12878	blood:	n/a	n/a
2	CBX3	chr8:47416966-47417169	K562	blood:	n/a	n/a
3	CCNT2	chr8:47432567-47432751	K562	blood:	n/a	n/a
4	CEBPB	chr8:47447545-47447780	A549	lung:	n/a	chr8:47447623-47447634
5	CEBPB	chr8:47447503-47447785	HepG2	liver:	n/a	chr8:47447623-47447634
6	CEBPB	chr8:47433493-47433666	HepG2	liver:	n/a	chr8:47433563-47433574
7	CEBPB	chr8:47433472-47433637	A549	lung:	n/a	chr8:47433563-47433574
8	CTCF	chr8:47399820-47399970	K562	blood:	n/a	n/a
9	CTCF	chr8:47399796-47399997	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:47399900-47400050	A549	lung:	n/a	n/a
11	CTCF	chr8:47399820-47399970	NHEK	skin:	n/a	n/a
12	CTCF	chr8:47399821-47399968	HepG2	liver:	n/a	n/a
13	CTCF	chr8:47399800-47399950	HMEC	breast:	n/a	n/a
14	CTCF	chr8:47399819-47399922	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr8:47399780-47399930	GM06990	blood:	n/a	n/a
16	CTCF	chr8:47399760-47399910	GM06990	blood:	n/a	n/a
17	CTCF	chr8:47399700-47399850	HMEC	breast:	n/a	n/a
18	CTCF	chr8:47399860-47400010	NHEK	skin:	n/a	n/a
19	CTCF	chr8:47399761-47400027	Gliobla	brain:	n/a	n/a
20	CTCF	chr8:47399759-47399939	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr8:47399800-47399950	HL-60	blood:	n/a	n/a
22	CTCF	chr8:47399800-47399950	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr8:47399890-47399913	Medullo	brain:	n/a	n/a
24	CTCF	chr8:47399780-47399930	A549	lung:	n/a	n/a
25	CTCF	chr8:47399780-47399930	HCFaa	heart:	n/a	n/a
26	CTCF	chr8:47399820-47399970	Caco-2	colon:	n/a	n/a
27	CTCF	chr8:47399769-47400014	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:47399780-47399930	HMF	breast:	n/a	n/a
29	CTCF	chr8:47399820-47399970	HEK293	kidney:	n/a	n/a
30	CTCF	chr8:47399800-47399950	AG09309	skin:	n/a	n/a
31	CTCF	chr8:47399820-47399970	GM12873	blood:	n/a	n/a
32	CTCF	chr8:47399840-47399990	SAEC	small airway:	n/a	n/a
33	CTCF	chr8:47399820-47399970	SAEC	small airway:	n/a	n/a
34	CTCF	chr8:47399820-47399970	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr8:47399800-47399950	MCF-7	breast:	n/a	n/a
36	CTCF	chr8:47399820-47399970	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr8:47399800-47399950	RPTEC	kidney:	n/a	n/a
38	CTCF	chr8:47399829-47399956	Fibrobl	skin:	n/a	n/a
39	CTCF	chr8:47399918-47399925	Medullo	brain:	n/a	n/a
40	CTCF	chr8:47399756-47400016	LNCaP	prostate:	n/a	n/a
41	CTCF	chr8:47399820-47399970	HMF	breast:	n/a	n/a
42	CTCF	chr8:47399890-47399908	A549	lung:	n/a	n/a
43	CTCF	chr8:47399800-47399950	NB4	blood:	n/a	n/a
44	CTCF	chr8:47399740-47399890	HEK293	kidney:	n/a	n/a
45	CTCF	chr8:47399820-47399970	GM12864	blood:	n/a	n/a
46	CTCF	chr8:47399820-47399970	GM12871	blood:	n/a	n/a
47	CTCF	chr8:47399635-47399997	T-47D	breast:	n/a	n/a
48	CTCF	chr8:47399747-47400029	K562	blood:	n/a	n/a
49	CTCF	chr8:47399801-47399958	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr8:47399845-47399919	HUVEC	blood vessel:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
HSPA8P13	TF binding region

Extended variants
information (count: 3691 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3691 , 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	rs559369213	chr8:47382807-47382808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528009318	chr8:47382811-47382812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139263267	chr8:47382812-47382813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567808157	chr8:47382828-47382829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530265503	chr8:47382834-47382835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7293721	chr8:47382835-47382836	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569789270	chr8:47382837-47382838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554769926	chr8:47382849-47382850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189689291	chr8:47382857-47382858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558564486	chr8:47382859-47382860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78330799	chr8:47382860-47382861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535252316	chr8:47382866-47382867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs180882216	chr8:47382867-47382868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs11996798	chr8:47382873-47382874	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554803655	chr8:47382891-47382892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574557504	chr8:47382911-47382912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11997522	chr8:47382940-47382941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192007405	chr8:47382951-47382952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577040498	chr8:47382958-47382959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145336555	chr8:47382970-47382971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552113241	chr8:47382972-47382973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559428046	chr8:47383017-47383018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147227136	chr8:47383031-47383032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13271437	chr8:47383051-47383052	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562062998	chr8:47383052-47383053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561585924	chr8:47383078-47383079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532980510	chr8:47383080-47383081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530254576	chr8:47383083-47383084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549831060	chr8:47383108-47383109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527640547	chr8:47383117-47383118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549992718	chr8:47383159-47383160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563527598	chr8:47383165-47383166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547820031	chr8:47383171-47383172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376787600	chr8:47383181-47383182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576328166	chr8:47383183-47383184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183592778	chr8:47383187-47383188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371050623	chr8:47383190-47383191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188569940	chr8:47383200-47383201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140594183	chr8:47383206-47383207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190077232	chr8:47383259-47383260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568315287	chr8:47383264-47383265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375178979	chr8:47383266-47383267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536924823	chr8:47383267-47383268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558474038	chr8:47383270-47383271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557226647	chr8:47383275-47383276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577102097	chr8:47383288-47383289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539585862	chr8:47383306-47383307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144455745	chr8:47383315-47383316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76745010	chr8:47383319-47383320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541773749	chr8:47383320-47383321	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47382000-47394000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:47382400-47386000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr8:47383200-47391800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr8:47383800-47390200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr8:47384600-47393000	ZNF genes & repeats	Liver	Liver
6	chr8:47385200-47386000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr8:47387200-47387800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:47393000-47395400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr8:47396600-47398600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:47397800-47398400	Active TSS	Fetal Heart	heart
11	chr8:47407000-47408600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr8:47409000-47427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:47412600-47424200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr8:47412600-47424800	ZNF genes & repeats	Liver	Liver
15	chr8:47414600-47418200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr8:47416000-47425400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr8:47416800-47419600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr8:47424200-47425200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr8:47428600-47429200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr8:47429400-47434600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr8:47429400-47436600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:47437000-47440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:47441200-47454400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:47443000-47444800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr8:47446000-47448200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr8:47446200-47447400	Active TSS	Fetal Heart	heart
27	chr8:47453400-47456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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