Variant report

Variant	esv3396459
Chromosome Location	chr8:86098050-86100248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
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	BCLAF1	chr8:86099406-86099989	GM12878	blood:	n/a	n/a
2	BHLHE40	chr8:86099765-86099991	GM12878	blood:	n/a	n/a
3	EBF1	chr8:86099559-86099678	GM12878	blood:	n/a	n/a
4	EP300	chr8:86099790-86100039	GM12878	blood:	n/a	n/a
5	EP300	chr8:86099732-86099960	GM12878	blood:	n/a	n/a
6	MEF2A	chr8:86099495-86100034	GM12878	blood:	n/a	n/a
7	NFIC	chr8:86099404-86100119	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:86099834-86100092	Raji	blood:	n/a	n/a
9	POLR2A	chr8:86099617-86099792	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr8:86099863-86100107	GM12878	blood:	n/a	n/a
11	RUNX3	chr8:86099498-86100159	GM12878	blood:	n/a	n/a
12	RUNX3	chr8:86099650-86100034	GM12878	blood:	n/a	n/a
13	SMC3	chr8:86099928-86099992	GM12878	blood:	n/a	n/a
14	SPI1	chr8:86099779-86100029	GM12891	blood:	n/a	n/a
15	SPI1	chr8:86099682-86099928	GM12878	blood:	n/a	n/a
16	SPI1	chr8:86099655-86100031	GM12878	blood:	n/a	n/a
17	SPI1	chr8:86099678-86100019	GM12891	blood:	n/a	n/a
18	SPI1	chr8:86099378-86100207	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr8:86099513-86100016	GM12878	blood:	n/a	n/a
20	ZNF143	chr8:86099891-86099927	GM12878	blood:	n/a	n/a
21	ZNF384	chr8:86099962-86100175	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86099504-86099554	GM19239	blood:	n/a
2	chr8:86099504-86099554	Hela-S3	cervix:	n/a
3	chr8:86099504-86099554	GM12891	blood:	n/a
4	chr8:86099504-86099554	Jurkat	blood:	n/a
5	chr8:86099504-86099554	NH-A	brain:	n/a
6	chr8:86099504-86099554	ECC-1	luminal epithelium:	n/a
7	chr8:86099504-86099554	PANC-1	pancreas:	n/a
8	chr8:86099504-86099554	ProgFib	skin:	n/a
9	chr8:86099504-86099554	SK-N-MC	brain:	n/a
10	chr8:86099504-86099554	AG10803	skin:	n/a
11	chr8:86099504-86099554	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:86099504-86099554	NT2-D1	testis:	n/a
13	chr8:86099504-86099554	RPTEC	kidney:	n/a
14	chr8:86099504-86099554	HEEpiC	esophagus:	n/a
15	chr8:86099504-86099554	AG04449	skin:	fetal
16	chr8:86099504-86099554	H1-hESC	embryonic stem cell:	embryo
17	chr8:86099504-86099554	SKMC	muscle:	n/a
18	chr8:86099504-86099554	GM12892	blood:	n/a
19	chr8:86099504-86099554	AoSMC	blood vessel:	n/a
20	chr8:86099504-86099554	HEK293	kidney:	embryo
21	chr8:86099504-86099554	HRE	kidney:	n/a
22	chr8:86099504-86099554	NHBE	bronchial:	n/a
23	chr8:86099504-86099554	HRPEpiC	eye:	n/a
24	chr8:86099504-86099554	HRCEpiC	kidney:	n/a
25	chr8:86099504-86099554	PrEC	prostate:	n/a
26	chr8:86099504-86099554	HCPEpiC	choroid plexus:	n/a
27	chr8:86099504-86099554	AG09309	skin:	n/a
28	chr8:86099504-86099554	HIPEpiC	eye:	n/a
29	chr8:86099504-86099554	SK-N-SH_RA	brain:	n/a
30	chr8:86099504-86099554	Hepatocyte	liver:	n/a
31	chr8:86099504-86099554	HL-60	blood:	n/a
32	chr8:86099504-86099554	CMK	blood:	n/a
33	chr8:86099504-86099554	AG04450	lung:	fetal
34	chr8:86099504-86099554	HCT-116	colon:	n/a
35	chr8:86099504-86099554	HAEpiC	amniotic membrane:	n/a
36	chr8:86099504-86099554	U87	brain:	n/a
37	chr8:86099504-86099554	IMR90	lung:	fetal
38	chr8:86099504-86099554	HUVEC	blood vessel:	n/a
39	chr8:86099504-86099554	AG09319	gingival:	n/a
40	chr8:86099504-86099554	GM12878	blood:	n/a
41	chr8:86099504-86099554	SK-N-SH	brain:	n/a
42	chr8:86099504-86099554	NB4	blood:	n/a
43	chr8:86099504-86099554	HCM	heart:	n/a
44	chr8:86099504-86099554	HCF	heart:	n/a
45	chr8:86099504-86099554	SAEC	small airway:	n/a
46	chr8:86099504-86099554	GM06990	blood:	n/a
47	chr8:86099504-86099554	BE2_C	brain:	n/a
48	chr8:86099504-86099554	HNPCEpiC	eye:	n/a
49	chr8:86099504-86099554	T-47D	breast:	n/a
50	chr8:86099504-86099554	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
2	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
3	chr8:86089844..86092252-chr8:86098327..86100668,2	MCF-7	breast:

No data

Variant related genes	Relation type
E2F5	TF binding region
E2F5	CpG island
ENSG00000260493	chromatin interactions
ENSG00000133740	chromatin interactions
ENSG00000254208	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536351484	chr8:86098057-86098058	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs550324320	chr8:86098071-86098072	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs28838073	chr8:86098077-86098078	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183630237	chr8:86098078-86098079	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201015570	chr8:86098091-86098092	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547681113	chr8:86098097-86098098	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs36170790	chr8:86098127-86098128	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs36189397	chr8:86098133-86098134	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs112143226	chr8:86098152-86098153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs36151101	chr8:86098164-86098165	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs36106684	chr8:86098176-86098177	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs578206061	chr8:86098182-86098183	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs12807113	chr8:86098187-86098188	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs202164806	chr8:86098220-86098221	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543727945	chr8:86098224-86098225	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs12507018	chr8:86098244-86098245	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7838900	chr8:86098249-86098250	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs369911286	chr8:86098251-86098252	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs185784260	chr8:86098274-86098275	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190241938	chr8:86098322-86098323	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182413040	chr8:86098346-86098347	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551636656	chr8:86098347-86098348	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs186728267	chr8:86098383-86098384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530856089	chr8:86098392-86098393	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192144207	chr8:86098404-86098405	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567540634	chr8:86098405-86098406	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184082121	chr8:86098413-86098414	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs549545555	chr8:86098414-86098415	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567644416	chr8:86098423-86098424	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566262044	chr8:86098426-86098427	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538312381	chr8:86098512-86098513	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs558352177	chr8:86098550-86098551	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188930082	chr8:86098587-86098588	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs538272477	chr8:86098621-86098622	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs193247877	chr8:86098646-86098647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs556262204	chr8:86098647-86098648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs571588183	chr8:86098666-86098667	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs574273864	chr8:86098668-86098669	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543072485	chr8:86098689-86098690	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs4150861	chr8:86098699-86098700	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs559768599	chr8:86098710-86098711	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528615152	chr8:86098713-86098714	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545492959	chr8:86098752-86098753	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs184629435	chr8:86098769-86098770	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs4150862	chr8:86098789-86098790	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs375685800	chr8:86098805-86098806	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs550747333	chr8:86098834-86098835	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs567475132	chr8:86098835-86098836	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529919783	chr8:86098845-86098846	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs200736332	chr8:86098855-86098856	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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 monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
5	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:86091600-86099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
9	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
10	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
15	chr8:86091800-86099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
17	chr8:86091800-86100600	Weak transcription	Dnd41	blood
18	chr8:86091800-86124200	Weak transcription	HMEC	breast
19	chr8:86093600-86100600	Weak transcription	Fetal Thymus	thymus
20	chr8:86096200-86099400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:86096200-86108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
23	chr8:86096400-86100200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:86096400-86102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:86096400-86107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:86096400-86121400	Weak transcription	A549	lung
27	chr8:86096600-86101600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:86096800-86099000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:86096800-86099200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:86096800-86100000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:86096800-86100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:86097000-86102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:86097600-86099000	Weak transcription	Primary B cells from cord blood	blood
37	chr8:86097800-86098600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:86098000-86101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:86098000-86101600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:86098600-86098800	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:86098800-86099400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:86099000-86099400	Enhancers	Primary B cells from cord blood	blood
44	chr8:86099000-86099400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:86099200-86099600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:86099400-86099600	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:86099400-86099600	Active TSS	Primary hematopoietic stem cells	blood
48	chr8:86099400-86099800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr8:86099400-86100000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:86099400-86100200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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