Variant report

Variant	rs4602925
Chromosome Location	chr8:117670802-117670803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:117670624-117670974	SK-N-SH_RA	brain:	n/a	n/a
2	REST	chr8:117670647-117670969	SK-N-SH	brain:	n/a	chr8:117670915-117670928
3	EP300	chr8:117670140-117670961	SK-N-SH_RA	brain:	n/a	chr8:117670301-117670315 chr8:117670871-117670881
4	RAD21	chr8:117670602-117671244	IMR90	lung:	n/a	n/a
5	YY1	chr8:117670492-117670944	SK-N-SH_RA	brain:	n/a	n/a
6	FOXA2	chr8:117670569-117671442	A549	lung:	n/a	chr8:117670872-117670884
7	GATA2	chr8:117670421-117671003	SH-SY5Y	brain:	n/a	n/a
8	GATA2	chr8:117670652-117671285	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr8:117670239-117670996	SK-N-SH_RA	brain:	n/a	chr8:117670301-117670315 chr8:117670871-117670881
10	FOXA1	chr8:117670641-117670983	T-47D	breast:	n/a	chr8:117670872-117670884 chr8:117670840-117670855
11	CEBPB	chr8:117670116-117671027	IMR90	lung:	n/a	chr8:117670303-117670316 chr8:117670304-117670315
12	POLR2A	chr8:117670418-117671035	SK-N-SH	brain:	n/a	n/a
13	FOXP2	chr8:117670329-117671017	SK-N-MC	brain:	n/a	chr8:117670872-117670884
14	MAZ	chr8:117669879-117671346	IMR90	lung:	n/a	chr8:117670304-117670313
15	FOSL2	chr8:117670573-117671331	A549	lung:	n/a	chr8:117670644-117670658
16	FOXA1	chr8:117670682-117671068	T-47D	breast:	n/a	chr8:117670872-117670884 chr8:117670840-117670855
17	TCF12	chr8:117670271-117671401	A549	lung:	n/a	n/a
18	POLR2A	chr8:117670798-117670821	HUVEC	blood vessel:	n/a	n/a
19	TCF12	chr8:117670089-117671261	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr8:117670290-117671244	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr8:117670488-117671141	SK-N-SH	brain:	n/a	n/a
22	RAD21	chr8:117670344-117670989	SK-N-SH_RA	brain:	n/a	n/a
23	RAD21	chr8:117669884-117672095	SK-N-SH	brain:	n/a	chr8:117671773-117671785 chr8:117671771-117671790 chr8:117671775-117671785 chr8:117671761-117671780 chr8:117671774-117671787
24	SP1	chr8:117670486-117671188	A549	lung:	n/a	chr8:117670694-117670715
25	FOXA2	chr8:117670611-117671241	A549	lung:	n/a	chr8:117670872-117670884
26	MAFK	chr8:117670555-117671291	IMR90	lung:	n/a	n/a
27	KAP1	chr8:117670138-117671171	HEK293	kidney:	n/a	n/a
28	NFIC	chr8:117670253-117671195	SK-N-SH	brain:	n/a	n/a
29	RCOR1	chr8:117670011-117671500	IMR90	lung:	n/a	n/a
30	SP1	chr8:117670506-117671045	A549	lung:	n/a	chr8:117670694-117670715
31	MAX	chr8:117670714-117671420	A549	lung:	n/a	n/a
32	POLR2A	chr8:117670282-117671184	HUVEC	blood vessel:	n/a	n/a
33	RAD21	chr8:117670588-117670950	SK-N-SH_RA	brain:	n/a	n/a
34	POLR2A	chr8:117670616-117671030	HUVEC	blood vessel:	n/a	n/a
35	KAP1	chr8:117670204-117671088	U2OS	brain:	n/a	n/a
36	GATA3	chr8:117670202-117671275	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117670068..117671859-chr8:117677157..117679893,2	MCF-7	breast:

Variant related genes	Relation type
EIF3H	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505289	0.87[ASW][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes]
rs1133950	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs16888613	0.81[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888720	0.95[YRI][hapmap];0.91[AMR][1000 genomes]
rs4492407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72681690	0.88[EUR][1000 genomes]
rs72681701	0.95[EUR][1000 genomes]
rs921066	0.83[GIH][hapmap];1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117647200-117677800	Weak transcription	Gastric	stomach
2	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:117654000-117672600	Weak transcription	Esophagus	oesophagus
4	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:117657800-117672200	Weak transcription	Lung	lung
7	chr8:117658800-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:117659000-117677200	Weak transcription	Thymus	Thymus
9	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
10	chr8:117659200-117671000	Weak transcription	Placenta	Placenta
11	chr8:117660000-117697400	Weak transcription	NHEK	skin
12	chr8:117660800-117675200	Weak transcription	Liver	Liver
13	chr8:117663400-117672200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:117664600-117672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:117664600-117673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:117664600-117682000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:117665200-117671800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:117665200-117677600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:117665800-117674800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:117665800-117675000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:117665800-117677400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:117665800-117697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:117666000-117699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:117666800-117671200	Strong transcription	Primary B cells from cord blood	blood
25	chr8:117667000-117699200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:117667200-117672000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:117667800-117673600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:117667800-117675200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:117668000-117672600	Weak transcription	Fetal Thymus	thymus
30	chr8:117668000-117675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:117668200-117671600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:117668200-117674800	Weak transcription	Primary T cells from cord blood	blood
33	chr8:117668200-117675000	Weak transcription	HMEC	breast
34	chr8:117668200-117688400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:117668400-117674000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:117668400-117677800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:117669000-117671200	Active TSS	Aorta	Aorta
39	chr8:117669200-117671000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:117669200-117671400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:117669200-117671400	Strong transcription	GM12878-XiMat	blood
42	chr8:117669200-117672000	Enhancers	Fetal Heart	heart
43	chr8:117669400-117671200	Enhancers	Fetal Stomach	stomach
44	chr8:117669600-117671000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:117669600-117671600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:117669600-117672400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:117669600-117673400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:117670000-117671000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:117670000-117671000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:117670000-117671000	Strong transcription	Dnd41	blood

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