Variant report

Variant	nsv890860
Chromosome Location	chr8:50403271-50520852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:123)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:50424465-50424754	GM12878	blood:	n/a	n/a
2	BATF	chr8:50424371-50424723	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:50492081-50492389	HepG2	liver:	n/a	chr8:50492201-50492212
4	CEBPB	chr8:50496113-50496343	HepG2	liver:	n/a	chr8:50496212-50496223
5	CEBPB	chr8:50460492-50460666	A549	lung:	n/a	chr8:50460577-50460590 chr8:50460577-50460590
6	CEBPB	chr8:50416234-50416241	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr8:50519786-50519787	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:50464940-50465090	GM12867	blood:	n/a	n/a
9	CTCF	chr8:50461335-50461394	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr8:50412600-50412750	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr8:50454220-50454370	HAc	cerebellar:	n/a	n/a
12	CTCF	chr8:50428427-50428538	Fibrobl	skin:	n/a	n/a
13	CTCF	chr8:50405584-50405614	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:50492889-50492986	GM13977	blood:	n/a	n/a
15	CTCF	chr8:50477807-50477872	GM10266	blood:	n/a	n/a
16	CTCF	chr8:50470620-50470770	GM12871	blood:	n/a	n/a
17	CTCF	chr8:50428519-50428572	GM20000	blood:	n/a	n/a
18	CTCF	chr8:50431623-50431664	Fibrobl	skin:	n/a	n/a
19	CTCF	chr8:50437779-50437811	GM13976	blood:	n/a	n/a
20	E2F4	chr8:50510339-50510445	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr8:50467167-50467274	MCF10A-Er-Src	breast:	n/a	n/a
22	FAM48A	chr8:50426450-50426658	GM12878	blood:	n/a	n/a
23	FOS	chr8:50424421-50424720	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr8:50505561-50505733	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr8:50471787-50471890	MCF10A-Er-Src	breast:	n/a	chr8:50471828-50471836
26	FOS	chr8:50467107-50467141	MCF10A-Er-Src	breast:	n/a	chr8:50467119-50467128
27	FOS	chr8:50424439-50424769	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:50479076-50479276	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:50424474-50424717	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr8:50424449-50424745	MCF10A-Er-Src	breast:	n/a	n/a
31	FOSL2	chr8:50424484-50424709	MCF-7	breast:	n/a	n/a
32	GABPA	chr8:50448475-50448564	HepG2	liver:	n/a	n/a
33	GABPA	chr8:50448427-50448588	HepG2	liver:	n/a	n/a
34	IRF4	chr8:50424308-50424751	GM12878	blood:	n/a	n/a
35	JUND	chr8:50424430-50424730	HepG2	liver:	n/a	chr8:50424592-50424603
36	JUND	chr8:50491548-50491708	HepG2	liver:	n/a	chr8:50491608-50491615 chr8:50491608-50491617 chr8:50491606-50491617
37	JUND	chr8:50460924-50461093	HepG2	liver:	n/a	n/a
38	KAP1	chr8:50509033-50509317	HEK293	kidney:	n/a	n/a
39	KAP1	chr8:50462983-50463385	K562	blood:	n/a	n/a
40	MAFF	chr8:50515003-50515008	HepG2	liver:	n/a	n/a
41	MAFF	chr8:50486369-50486569	K562	blood:	n/a	chr8:50486505-50486523
42	MAFF	chr8:50491751-50491808	HepG2	liver:	n/a	n/a
43	MAFF	chr8:50404604-50404768	HepG2	liver:	n/a	chr8:50404626-50404644
44	MAFF	chr8:50486358-50486605	HepG2	liver:	n/a	chr8:50486505-50486523
45	MAFK	chr8:50461763-50462000	HepG2	liver:	n/a	n/a
46	MAFK	chr8:50459941-50460164	HepG2	liver:	n/a	chr8:50460009-50460023
47	MAFK	chr8:50474348-50474476	HepG2	liver:	n/a	n/a
48	MAFK	chr8:50491704-50491904	HepG2	liver:	n/a	n/a
49	MAFK	chr8:50486342-50486646	IMR90	lung:	n/a	n/a
50	MAFK	chr8:50488729-50488935	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50494738-50494788	AG09309	skin:	n/a
2	chr8:50494738-50494788	AG09309	skin:	n/a
3	chr8:50494738-50494788	HRPEpiC	eye:	n/a
4	chr8:50494738-50494788	HCPEpiC	choroid plexus:	n/a
5	chr8:50494670-50494720	Hela-S3	cervix:	n/a
6	chr8:50494670-50494720	HRCEpiC	kidney:	n/a
7	chr8:50494670-50494720	A549	lung:	n/a
8	chr8:50494670-50494720	HRPEpiC	eye:	n/a
9	chr8:50494738-50494788	HIPEpiC	eye:	n/a
10	chr8:50494738-50494788	CMK	blood:	n/a
11	chr8:50494670-50494720	AG04449	skin:	fetal
12	chr8:50494670-50494720	ovcar-3	ovarian:	n/a
13	chr8:50494670-50494720	ProgFib	skin:	n/a
14	chr8:50494738-50494788	HepG2	liver:	n/a
15	chr8:50494738-50494788	HCM	heart:	n/a
16	chr8:50494670-50494720	Hepatocyte	liver:	n/a
17	chr8:50494738-50494788	PrEC	prostate:	n/a
18	chr8:50494738-50494788	GM19239	blood:	n/a
19	chr8:50494738-50494788	GM06990	blood:	n/a
20	chr8:50494738-50494788	ECC-1	luminal epithelium:	n/a
21	chr8:50494670-50494720	NB4	blood:	n/a
22	chr8:50494738-50494788	HCT-116	colon:	n/a
23	chr8:50494738-50494788	Hela-S3	cervix:	n/a
24	chr8:50494738-50494788	T-47D	breast:	n/a
25	chr8:50494670-50494720	HUVEC	blood vessel:	n/a
26	chr8:50494670-50494720	IMR90	lung:	fetal
27	chr8:50494738-50494788	GM12891	blood:	n/a
28	chr8:50494738-50494788	AG10803	skin:	n/a
29	chr8:50494670-50494720	GM06990	blood:	n/a
30	chr8:50494738-50494788	HEK293	kidney:	embryo
31	chr8:50494670-50494720	ECC-1	luminal epithelium:	n/a
32	chr8:50494738-50494788	GM12878	blood:	n/a
33	chr8:50494670-50494720	HepG2	liver:	n/a
34	chr8:50494738-50494788	Hepatocyte	liver:	n/a
35	chr8:50494738-50494788	LNCaP	prostate:	n/a
36	chr8:50494670-50494720	HRE	kidney:	n/a
37	chr8:50494738-50494788	HCF	heart:	n/a
38	chr8:50494738-50494788	GM12892	blood:	n/a
39	chr8:50494670-50494720	GM12892	blood:	n/a
40	chr8:50494670-50494720	AG09309	skin:	n/a
41	chr8:50494738-50494788	IMR90	lung:	fetal
42	chr8:50494670-50494720	AoSMC	blood vessel:	n/a
43	chr8:50494738-50494788	SK-N-MC	brain:	n/a
44	chr8:50494738-50494788	SKMC	muscle:	n/a
45	chr8:50494670-50494720	AG04450	lung:	fetal
46	chr8:50494670-50494720	HEEpiC	esophagus:	n/a
47	chr8:50494738-50494788	A549	lung:	n/a
48	chr8:50494670-50494720	BE2_C	brain:	n/a
49	chr8:50494738-50494788	SK-N-SH	brain:	n/a
50	chr8:50494670-50494720	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:
2	chr8:50456943..50459691-chr8:50460903..50462804,2	MCF-7	breast:
3	chr8:50395221..50397543-chr8:50402647..50404845,2	K562	blood:
4	chr8:50456943..50459691-chr8:50460903..50462804,2	MCF-7	breast:
5	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-738G5.2.1-1	chr8:50409334-50409534	XLOC_007081
2	lnc-RP11-738G5.2.1-1	chr8:50409322-50409534	ENSG00000253380
3	lnc-RP11-738G5.2.1-1	chr8:50424686-50424778	XLOC_007081
4	lnc-RP11-738G5.2.1-1	chr8:50424686-50424739	ENSG00000253380

No data

Variant related genes	Relation type
ENSG00000253380	TF binding region
ENSG00000253206	TF binding region
ENSG00000253380	CpG island
ENSG00000253206	CpG island

Extended variants
information (count: 1032 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80024861	chr8:50409363-50409364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs75723380	chr8:50409372-50409373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534193159	chr8:50409373-50409374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141340256	chr8:50409388-50409389	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192482813	chr8:50409405-50409406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs80130201	chr8:50409425-50409426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556619235	chr8:50409511-50409512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs184106815	chr8:50420408-50420409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190147702	chr8:50420485-50420486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34976005	chr8:50420586-50420587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192940246	chr8:50420598-50420599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534212551	chr8:50420603-50420604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145449367	chr8:50420621-50420622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577199223	chr8:50420633-50420634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570177879	chr8:50420649-50420650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544964813	chr8:50420718-50420719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185539733	chr8:50420758-50420759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554216069	chr8:50420827-50420828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76527853	chr8:50420838-50420839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542802445	chr8:50420842-50420843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201206120	chr8:50420848-50420849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577148350	chr8:50420875-50420876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561082779	chr8:50420896-50420897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545913125	chr8:50420908-50420909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528167373	chr8:50420987-50420988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79666017	chr8:50421002-50421003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576580208	chr8:50421018-50421019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555899697	chr8:50421040-50421041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542350087	chr8:50421074-50421075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558812768	chr8:50421084-50421085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1632267	chr8:50421090-50421091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78245847	chr8:50421097-50421098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569163386	chr8:50421112-50421113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530341182	chr8:50421136-50421137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548343979	chr8:50421140-50421141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535384202	chr8:50421159-50421160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111434553	chr8:50421239-50421240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572648975	chr8:50421261-50421262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202198796	chr8:50421273-50421274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112919630	chr8:50421274-50421275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555761569	chr8:50421276-50421277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566749389	chr8:50421303-50421304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78609796	chr8:50421330-50421331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376768868	chr8:50421344-50421345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73679570	chr8:50421367-50421368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113826361	chr8:50421390-50421391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564596541	chr8:50421429-50421430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76757602	chr8:50421452-50421453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575577460	chr8:50421455-50421456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373266122	chr8:50421499-50421500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Chordoma	21215367	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50420400-50421000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50421000-50424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:50424400-50425000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:50424400-50425000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:50424400-50425000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:50424400-50425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:50431600-50432000	Enhancers	Spleen	Spleen
8	chr8:50439000-50439600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:50445800-50447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:50447200-50447400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:50447400-50448800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:50448800-50449000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:50449000-50450200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:50450200-50454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:50454400-50454600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:50454400-50455000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:50455000-50458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:50458000-50459600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:50458400-50459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:50458400-50459000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:50494600-50494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:50494800-50495600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:50494800-50497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:50495200-50495400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr8:50495400-50496400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:50495600-50498200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:50496600-50496800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:50506200-50506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:50516600-50517000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:50516600-50517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:50516600-50517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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