Variant report

Variant	nsv1020859
Chromosome Location	chr8:39857347-39877897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:39865066-39865411	A549	lung:	n/a	chr8:39865275-39865286
2	CEBPB	chr8:39857287-39857491	HepG2	liver:	n/a	chr8:39857350-39857361
3	CEBPB	chr8:39857277-39857471	A549	lung:	n/a	chr8:39857350-39857361
4	CEBPB	chr8:39870741-39870814	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:39865154-39865346	HepG2	liver:	n/a	chr8:39865275-39865286
6	CEBPB	chr8:39865102-39865380	IMR90	lung:	n/a	chr8:39865275-39865286
7	CTCF	chr8:39867702-39867781	GM20000	blood:	n/a	n/a
8	CTCF	chr8:39864379-39864435	LNCaP	prostate:	n/a	n/a
9	E2F4	chr8:39861662-39861731	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr8:39871246-39871399	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr8:39858104-39858142	GM12878	blood:	n/a	n/a
12	FOS	chr8:39865128-39865338	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr8:39872003-39872267	T-47D	breast:	n/a	chr8:39872156-39872171
14	GATA2	chr8:39862623-39862936	SH-SY5Y	brain:	n/a	chr8:39862742-39862749 chr8:39862743-39862755 chr8:39862745-39862753
15	GATA2	chr8:39872545-39873736	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr8:39873515-39873721	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr8:39862062-39862186	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr8:39869377-39869561	SH-SY5Y	brain:	n/a	chr8:39869430-39869440
19	JUND	chr8:39867768-39867925	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr8:39861740-39861800	HepG2	liver:	n/a	chr8:39861773-39861782 chr8:39861771-39861782 chr8:39861772-39861782 chr8:39861772-39861783
21	NRF1	chr8:39868779-39868978	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:39868682-39868823	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:39859337-39859426	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:39860207-39860277	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:39863866-39863941	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr8:39867791-39867850	A549	lung:	n/a	n/a
27	POLR2A	chr8:39859322-39859431	GM12878	blood:	n/a	n/a
28	RCOR1	chr8:39858500-39858734	K562	blood:	n/a	n/a
29	REST	chr8:39874991-39875056	PANC-1	pancreas:	n/a	n/a
30	STAT3	chr8:39861709-39861877	MCF10A-Er-Src	breast:	n/a	chr8:39861773-39861782
31	STAT3	chr8:39865127-39865353	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr8:39865067-39865329	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr8:39865208-39865297	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr8:39871461-39871661	MCF10A-Er-Src	breast:	n/a	chr8:39871594-39871617
35	STAT3	chr8:39865174-39865347	MCF10A-Er-Src	breast:	n/a	n/a
36	TAL1	chr8:39870399-39870594	K562	blood:	n/a	chr8:39870483-39870498 chr8:39870483-39870498 chr8:39870483-39870498
37	USF2	chr8:39861720-39861777	HepG2	liver:	n/a	n/a
38	ZNF384	chr8:39858803-39858811	GM12878	blood:	n/a	n/a
39	ZNF384	chr8:39872701-39872730	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:39873708-39873758	AG04449	skin:	fetal
2	chr8:39869813-39869863	BE2_C	brain:	n/a
3	chr8:39873708-39873758	NB4	blood:	n/a
4	chr8:39873708-39873758	K562	blood:	n/a
5	chr8:39873708-39873758	HCF	heart:	n/a
6	chr8:39869813-39869863	GM06990	blood:	n/a
7	chr8:39869813-39869863	GM19239	blood:	n/a
8	chr8:39869813-39869863	CMK	blood:	n/a
9	chr8:39873708-39873758	T-47D	breast:	n/a
10	chr8:39869813-39869863	IMR90	lung:	fetal
11	chr8:39873708-39873758	LNCaP	prostate:	n/a
12	chr8:39873708-39873758	AoSMC	blood vessel:	n/a
13	chr8:39869813-39869863	AoSMC	blood vessel:	n/a
14	chr8:39873708-39873758	AG10803	skin:	n/a
15	chr8:39873708-39873758	PrEC	prostate:	n/a
16	chr8:39869813-39869863	ProgFib	skin:	n/a
17	chr8:39873708-39873758	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:39869813-39869863	RPTEC	kidney:	n/a
19	chr8:39869813-39869863	HCM	heart:	n/a
20	chr8:39873708-39873758	ProgFib	skin:	n/a
21	chr8:39869813-39869863	Jurkat	blood:	n/a
22	chr8:39869813-39869863	HCT-116	colon:	n/a
23	chr8:39873708-39873758	RPTEC	kidney:	n/a
24	chr8:39873708-39873758	GM19239	blood:	n/a
25	chr8:39869813-39869863	LNCaP	prostate:	n/a
26	chr8:39869813-39869863	SK-N-SH_RA	brain:	n/a
27	chr8:39869813-39869863	SK-N-MC	brain:	n/a
28	chr8:39869813-39869863	HPAEpiC	pulmonary alveolar:	n/a
29	chr8:39869813-39869863	SKMC	muscle:	n/a
30	chr8:39873708-39873758	HCM	heart:	n/a
31	chr8:39873708-39873758	ovcar-3	ovarian:	n/a
32	chr8:39869813-39869863	HMEC	breast:	n/a
33	chr8:39869813-39869863	GM12891	blood:	n/a
34	chr8:39873708-39873758	HL-60	blood:	n/a
35	chr8:39869813-39869863	AG09319	gingival:	n/a
36	chr8:39869813-39869863	AG04449	skin:	fetal
37	chr8:39873708-39873758	BJ	skin:	n/a
38	chr8:39873708-39873758	Hepatocyte	liver:	n/a
39	chr8:39873708-39873758	NHDF-neo	bronchial:	n/a
40	chr8:39869813-39869863	AG04450	lung:	fetal
41	chr8:39869813-39869863	HAEpiC	amniotic membrane:	n/a
42	chr8:39869813-39869863	Caco-2	colon:	n/a
43	chr8:39873708-39873758	HCPEpiC	choroid plexus:	n/a
44	chr8:39869813-39869863	PFSK-1	brain:	n/a
45	chr8:39869813-39869863	Hepatocyte	liver:	n/a
46	chr8:39873708-39873758	A549	lung:	n/a
47	chr8:39869813-39869863	NHDF-neo	bronchial:	n/a
48	chr8:39873708-39873758	HIPEpiC	eye:	n/a
49	chr8:39873708-39873758	HNPCEpiC	eye:	n/a
50	chr8:39869813-39869863	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:26115870..26116795-chr8:39868859..39869559,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253790	TF binding region
ENSG00000253939	TF binding region
ENSG00000253790	CpG island
ENSG00000253939	CpG island

Extended variants
information (count: 1046 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1046 , 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	rs535179680	chr8:39857375-39857376	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs2909325	chr8:39857383-39857384	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574739731	chr8:39857400-39857401	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs369811894	chr8:39857422-39857423	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs190418856	chr8:39857473-39857474	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs2543079	chr8:39857570-39857571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536301757	chr8:39857618-39857619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544678586	chr8:39857619-39857620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117459767	chr8:39857708-39857709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561772643	chr8:39857735-39857736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112487431	chr8:39857741-39857742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547714421	chr8:39857786-39857787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533879055	chr8:39857792-39857793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72630566	chr8:39857800-39857801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28532738	chr8:39857803-39857804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112885999	chr8:39857826-39857827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112464121	chr8:39857846-39857847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538988410	chr8:39857864-39857865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148273182	chr8:39857883-39857884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562624198	chr8:39857884-39857885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10107570	chr8:39857901-39857902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111485503	chr8:39857909-39857910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370545119	chr8:39857928-39857929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111983380	chr8:39857929-39857930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555273199	chr8:39858024-39858025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10104711	chr8:39858026-39858027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs537265506	chr8:39858051-39858052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16888530	chr8:39858078-39858079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575739170	chr8:39858085-39858086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140358052	chr8:39858100-39858101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149265889	chr8:39858159-39858160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80317010	chr8:39858173-39858174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150307422	chr8:39858382-39858383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572054484	chr8:39858383-39858384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540958536	chr8:39858393-39858394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561176988	chr8:39858405-39858406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529867816	chr8:39858434-39858435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137900746	chr8:39858451-39858452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563737635	chr8:39858452-39858453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112006622	chr8:39858479-39858480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374693169	chr8:39858545-39858546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs182002364	chr8:39858576-39858577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368904460	chr8:39858632-39858633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140987115	chr8:39858690-39858691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2955880	chr8:39858693-39858694	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71519523	chr8:39858708-39858709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143553763	chr8:39858719-39858720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147162253	chr8:39858723-39858724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550767438	chr8:39858729-39858730	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138707549	chr8:39858730-39858731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
2	chr8:39856000-39864600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:39862800-39863400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:39863400-39866600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:39864600-39865200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:39864600-39868400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:39865200-39865600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:39865600-39866600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:39866200-39868000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:39866400-39868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:39866600-39866800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:39866600-39867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:39866800-39867000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:39866800-39867800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:39867000-39867600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:39867600-39868000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:39867600-39868000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:39867600-39868400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:39867800-39868000	Enhancers	Colon Smooth Muscle	Colon
20	chr8:39868000-39869400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:39868000-39870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:39868000-39879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:39869200-39870200	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:39869200-39871800	Enhancers	Ovary	ovary
25	chr8:39869400-39869600	Enhancers	Right Ventricle	heart
26	chr8:39869400-39870400	Enhancers	Fetal Muscle Leg	muscle
27	chr8:39869400-39870400	Enhancers	Left Ventricle	heart
28	chr8:39869400-39871800	Enhancers	Fetal Stomach	stomach
29	chr8:39869400-39872200	Enhancers	Colon Smooth Muscle	Colon
30	chr8:39869600-39874400	Weak transcription	Right Ventricle	heart
31	chr8:39870000-39870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:39870200-39870400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:39870200-39870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:39870200-39872800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:39870200-39873600	Enhancers	Fetal Lung	lung
36	chr8:39870400-39871000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:39870400-39871000	Enhancers	Rectal Smooth Muscle	rectum
38	chr8:39870800-39872400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:39871000-39871200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:39871000-39871400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:39871200-39873000	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:39871400-39872400	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:39871800-39873000	Weak transcription	Ovary	ovary
44	chr8:39872000-39872400	Enhancers	A549	lung
45	chr8:39872800-39873000	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:39872800-39873200	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:39872800-39873200	Enhancers	Right Atrium	heart
48	chr8:39873000-39873200	Enhancers	Fetal Muscle Leg	muscle
49	chr8:39873000-39873200	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links