Variant report

Variant	nsv1028239
Chromosome Location	chr8:50438306-50511501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:50460492-50460666	A549	lung:	n/a	chr8:50460577-50460590 chr8:50460577-50460590
2	CEBPB	chr8:50496113-50496343	HepG2	liver:	n/a	chr8:50496212-50496223
3	CEBPB	chr8:50492081-50492389	HepG2	liver:	n/a	chr8:50492201-50492212
4	CTCF	chr8:50492889-50492986	GM13977	blood:	n/a	n/a
5	CTCF	chr8:50454220-50454370	HAc	cerebellar:	n/a	n/a
6	CTCF	chr8:50461335-50461394	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr8:50477807-50477872	GM10266	blood:	n/a	n/a
8	CTCF	chr8:50470620-50470770	GM12871	blood:	n/a	n/a
9	CTCF	chr8:50464940-50465090	GM12867	blood:	n/a	n/a
10	E2F4	chr8:50467167-50467274	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr8:50510339-50510445	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:50505561-50505733	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:50471787-50471890	MCF10A-Er-Src	breast:	n/a	chr8:50471828-50471836
14	FOS	chr8:50467107-50467141	MCF10A-Er-Src	breast:	n/a	chr8:50467119-50467128
15	FOS	chr8:50479076-50479276	MCF10A-Er-Src	breast:	n/a	n/a
16	GABPA	chr8:50448427-50448588	HepG2	liver:	n/a	n/a
17	GABPA	chr8:50448475-50448564	HepG2	liver:	n/a	n/a
18	JUND	chr8:50491548-50491708	HepG2	liver:	n/a	chr8:50491608-50491615 chr8:50491608-50491617 chr8:50491606-50491617
19	JUND	chr8:50460924-50461093	HepG2	liver:	n/a	n/a
20	KAP1	chr8:50509033-50509317	HEK293	kidney:	n/a	n/a
21	KAP1	chr8:50462983-50463385	K562	blood:	n/a	n/a
22	MAFF	chr8:50486369-50486569	K562	blood:	n/a	chr8:50486505-50486523
23	MAFF	chr8:50491751-50491808	HepG2	liver:	n/a	n/a
24	MAFF	chr8:50486358-50486605	HepG2	liver:	n/a	chr8:50486505-50486523
25	MAFK	chr8:50487917-50488071	HepG2	liver:	n/a	n/a
26	MAFK	chr8:50486348-50486690	HepG2	liver:	n/a	n/a
27	MAFK	chr8:50491704-50491904	HepG2	liver:	n/a	n/a
28	MAFK	chr8:50488729-50488935	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
29	MAFK	chr8:50487891-50488026	HepG2	liver:	n/a	n/a
30	MAFK	chr8:50459941-50460164	HepG2	liver:	n/a	chr8:50460009-50460023
31	MAFK	chr8:50486454-50486605	K562	blood:	n/a	n/a
32	MAFK	chr8:50491655-50491895	HepG2	liver:	n/a	n/a
33	MAFK	chr8:50461763-50462000	HepG2	liver:	n/a	n/a
34	MAFK	chr8:50474348-50474476	HepG2	liver:	n/a	n/a
35	MAFK	chr8:50486342-50486646	IMR90	lung:	n/a	n/a
36	MAFK	chr8:50507513-50507686	HepG2	liver:	n/a	n/a
37	MAFK	chr8:50507607-50507674	HepG2	liver:	n/a	n/a
38	MAFK	chr8:50488684-50488853	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
39	MAX	chr8:50483495-50483657	NB4	blood:	n/a	n/a
40	MAX	chr8:50486126-50486389	NB4	blood:	n/a	chr8:50486219-50486229 chr8:50486258-50486268
41	MAX	chr8:50486159-50486362	H1-hESC	embryonic stem cell:	n/a	chr8:50486219-50486229 chr8:50486258-50486268
42	MAZ	chr8:50473376-50473377	HepG2	liver:	n/a	n/a
43	NFYB	chr8:50466976-50467176	Hela-S3	cervix:	n/a	n/a
44	PBX3	chr8:50448476-50448574	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:50451673-50451868	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr8:50496687-50496696	MCF-7	breast:	n/a	n/a
47	POLR2A	chr8:50463387-50463495	GM12878	blood:	n/a	n/a
48	POLR2A	chr8:50509366-50509497	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:50479083-50479267	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr8:50459535-50459617	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50494738-50494788	NH-A	brain:	n/a
2	chr8:50494670-50494720	HNPCEpiC	eye:	n/a
3	chr8:50494670-50494720	HepG2	liver:	n/a
4	chr8:50494738-50494788	HCF	heart:	n/a
5	chr8:50494670-50494720	NHBE	bronchial:	n/a
6	chr8:50494738-50494788	RPTEC	kidney:	n/a
7	chr8:50494670-50494720	NH-A	brain:	n/a
8	chr8:50494738-50494788	MCF10A-Er-Src	breast:	n/a
9	chr8:50494670-50494720	MCF-7	breast:	n/a
10	chr8:50494670-50494720	Jurkat	blood:	n/a
11	chr8:50494670-50494720	BJ	skin:	n/a
12	chr8:50494670-50494720	SKMC	muscle:	n/a
13	chr8:50494738-50494788	HL-60	blood:	n/a
14	chr8:50494670-50494720	T-47D	breast:	n/a
15	chr8:50494670-50494720	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:50494670-50494720	RPTEC	kidney:	n/a
17	chr8:50494738-50494788	NHDF-neo	bronchial:	n/a
18	chr8:50494738-50494788	PFSK-1	brain:	n/a
19	chr8:50494738-50494788	K562	blood:	n/a
20	chr8:50494738-50494788	HAEpiC	amniotic membrane:	n/a
21	chr8:50494738-50494788	AG09309	skin:	n/a
22	chr8:50494738-50494788	HEEpiC	esophagus:	n/a
23	chr8:50494738-50494788	SK-N-MC	brain:	n/a
24	chr8:50494738-50494788	A549	lung:	n/a
25	chr8:50494738-50494788	GM12878	blood:	n/a
26	chr8:50494670-50494720	AG09319	gingival:	n/a
27	chr8:50494670-50494720	SK-N-SH_RA	brain:	n/a
28	chr8:50494670-50494720	AG04449	skin:	fetal
29	chr8:50494670-50494720	HCPEpiC	choroid plexus:	n/a
30	chr8:50494670-50494720	AG04450	lung:	fetal
31	chr8:50494670-50494720	Caco-2	colon:	n/a
32	chr8:50494670-50494720	HRPEpiC	eye:	n/a
33	chr8:50494738-50494788	ProgFib	skin:	n/a
34	chr8:50494738-50494788	GM12892	blood:	n/a
35	chr8:50494670-50494720	IMR90	lung:	fetal
36	chr8:50494670-50494720	HCT-116	colon:	n/a
37	chr8:50494738-50494788	U87	brain:	n/a
38	chr8:50494738-50494788	AG04450	lung:	fetal
39	chr8:50494738-50494788	PANC-1	pancreas:	n/a
40	chr8:50494670-50494720	Hela-S3	cervix:	n/a
41	chr8:50494670-50494720	HCF	heart:	n/a
42	chr8:50494738-50494788	H1-hESC	embryonic stem cell:	embryo
43	chr8:50494670-50494720	PFSK-1	brain:	n/a
44	chr8:50494738-50494788	SK-N-SH	brain:	n/a
45	chr8:50494738-50494788	HRCEpiC	kidney:	n/a
46	chr8:50494738-50494788	HRE	kidney:	n/a
47	chr8:50494738-50494788	GM19239	blood:	n/a
48	chr8:50494670-50494720	Hepatocyte	liver:	n/a
49	chr8:50494670-50494720	LNCaP	prostate:	n/a
50	chr8:50494670-50494720	HRCEpiC	kidney:	n/a

(count:4 , 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	chr8:50456943..50459691-chr8:50460903..50462804,2	MCF-7	breast:
4	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:

No data

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

Extended variants
information (count: 768 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532648396	chr8:50439059-50439060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192268643	chr8:50439073-50439074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149228466	chr8:50439117-50439118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183422959	chr8:50439120-50439121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530077792	chr8:50439200-50439201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117277205	chr8:50439216-50439217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567589709	chr8:50439222-50439223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528026241	chr8:50439230-50439231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550547600	chr8:50439244-50439245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548124972	chr8:50439252-50439253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143385144	chr8:50439268-50439269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553216222	chr8:50439273-50439274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369713382	chr8:50439307-50439308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529102427	chr8:50439345-50439346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538824805	chr8:50439408-50439409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146430790	chr8:50439544-50439545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544468055	chr8:50445809-50445810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532764046	chr8:50445813-50445814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556728250	chr8:50445820-50445821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574959254	chr8:50445831-50445832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55710254	chr8:50445851-50445852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542178403	chr8:50445874-50445875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62501262	chr8:50445903-50445904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562166724	chr8:50445904-50445905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528381209	chr8:50445928-50445929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369163677	chr8:50445939-50445940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369981156	chr8:50445961-50445962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200078207	chr8:50445974-50445975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532373451	chr8:50445982-50445983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572530760	chr8:50446017-50446018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541684530	chr8:50446075-50446076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564664532	chr8:50446078-50446079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529704045	chr8:50446092-50446093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547790230	chr8:50446174-50446175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531322268	chr8:50446177-50446178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201627103	chr8:50446181-50446182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550916832	chr8:50446193-50446194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533551203	chr8:50446206-50446207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182329333	chr8:50446212-50446213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548327533	chr8:50446220-50446221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568647551	chr8:50446225-50446226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111866354	chr8:50446242-50446243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534216094	chr8:50446275-50446276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539473248	chr8:50446281-50446282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548115252	chr8:50446300-50446301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556762845	chr8:50446311-50446312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570733282	chr8:50446386-50446387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539874896	chr8:50446421-50446422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574995714	chr8:50446429-50446430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187327970	chr8:50446485-50446486	Enhancers	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:21 , 50 per page) page: 1

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links