Variant report

Variant	nsv465742
Chromosome Location	chr8:96444602-96456072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:96449382-96449610	IMR90	lung:	n/a	chr8:96449516-96449527
2	CEBPB	chr8:96449345-96449721	HepG2	liver:	n/a	chr8:96449516-96449527
3	CEBPB	chr8:96445313-96445477	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:96449408-96449593	A549	lung:	n/a	chr8:96449516-96449527
5	CTCF	chr8:96446480-96446630	GM12867	blood:	n/a	n/a
6	EP300	chr8:96453418-96453429	GM12878	blood:	n/a	n/a
7	FOS	chr8:96449365-96449506	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr8:96449402-96449549	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:96453896-96454643	HUVEC	blood vessel:	n/a	chr8:96454386-96454397 chr8:96454437-96454446
10	FOXA1	chr8:96449356-96449631	HepG2	liver:	n/a	n/a
11	FOXA2	chr8:96449379-96449642	HepG2	liver:	n/a	n/a
12	FOXP2	chr8:96451989-96452239	SK-N-MC	brain:	n/a	n/a
13	GATA2	chr8:96454151-96454723	HUVEC	blood vessel:	n/a	n/a
14	JUN	chr8:96454244-96454596	HUVEC	blood vessel:	n/a	chr8:96454437-96454446
15	POLR2A	chr8:96454306-96454509	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr8:96453568-96453755	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:96454110-96454529	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr8:96444556-96444702	MCF10A-Er-Src	breast:	n/a	n/a
19	SETDB1	chr8:96453976-96454448	U2OS	brain:	n/a	n/a
20	STAT1	chr8:96447792-96447830	GM12878	blood:	n/a	n/a
21	USF2	chr8:96446187-96446189	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:
2	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHF2-2	chr8:96444854-96445008	ENSG00000253773.1
2	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127831
3	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127835
4	lnc-PLEKHF2-2	chr8:96444854-96444894	ENSG00000253773.1
5	lnc-PLEKHF2-2	chr8:96444854-96445008	NONHSAT127837
6	lnc-PLEKHF2-2	chr8:96444865-96445008	ENSG00000253773.1

No data

Variant related genes	Relation type
ENSG00000253773	TF binding region

Extended variants
information (count: 295 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3133754	chr8:96444602-96444603	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111686385	chr8:96444628-96444629	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs10110745	chr8:96444664-96444665	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550521153	chr8:96444708-96444709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563666402	chr8:96444716-96444717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147867677	chr8:96444740-96444741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573769083	chr8:96444762-96444763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139319000	chr8:96444767-96444768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150004198	chr8:96444777-96444778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536867523	chr8:96444790-96444791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145372201	chr8:96444800-96444801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371150713	chr8:96444817-96444818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556439237	chr8:96444878-96444879	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs182358495	chr8:96444884-96444885	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536138148	chr8:96444915-96444916	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556080744	chr8:96444944-96444945	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10113800	chr8:96445002-96445003	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs554126462	chr8:96445049-96445050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538209072	chr8:96445087-96445088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558544679	chr8:96445088-96445089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76082190	chr8:96445093-96445094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541154167	chr8:96445137-96445138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564109168	chr8:96445178-96445179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186001833	chr8:96445202-96445203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531602982	chr8:96445203-96445204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373829209	chr8:96445204-96445205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370206319	chr8:96445219-96445220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11778374	chr8:96445220-96445221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11778375	chr8:96445221-96445222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11774175	chr8:96445227-96445228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540355241	chr8:96445243-96445244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11780792	chr8:96445250-96445251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149189590	chr8:96445262-96445263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11774183	chr8:96445266-96445267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138131211	chr8:96445272-96445273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192080908	chr8:96445283-96445284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12674640	chr8:96445293-96445294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75894689	chr8:96445294-96445295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75348871	chr8:96445295-96445296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374766850	chr8:96445313-96445314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552257009	chr8:96445316-96445317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560308664	chr8:96445380-96445381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374608338	chr8:96445396-96445397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145190015	chr8:96445404-96445405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183927468	chr8:96445411-96445412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386413403	chr8:96445439-96445440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567114613	chr8:96445458-96445459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386413404	chr8:96445460-96445461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55758720	chr8:96445461-96445462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368665289	chr8:96445462-96445463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96443200-96447800	Weak transcription	Fetal Lung	lung
2	chr8:96443400-96445000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:96443800-96447400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:96444400-96446600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:96444400-96447600	Weak transcription	Ovary	ovary
6	chr8:96444600-96446800	Weak transcription	Fetal Stomach	stomach
7	chr8:96444600-96449200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:96446600-96448200	Enhancers	Colon Smooth Muscle	Colon
9	chr8:96446800-96447000	Enhancers	Fetal Stomach	stomach
10	chr8:96447000-96447400	Weak transcription	Fetal Stomach	stomach
11	chr8:96447400-96448000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:96447400-96448800	Enhancers	Fetal Stomach	stomach
13	chr8:96447600-96449800	Enhancers	Ovary	ovary
14	chr8:96447800-96449600	Enhancers	Fetal Lung	lung
15	chr8:96448800-96450000	Enhancers	Liver	Liver
16	chr8:96449200-96449400	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:96451600-96451800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:96453800-96454800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:96453800-96455400	Enhancers	HUVEC	blood vessel
20	chr8:96454200-96454800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:96454200-96454800	Enhancers	Osteobl	bone
22	chr8:96454400-96454800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:96454800-96456200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:96455000-96456000	Enhancers	Right Ventricle	heart
25	chr8:96455800-96456800	Enhancers	Fetal Heart	heart

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