Variant report

Variant	rs2470723
Chromosome Location	chr8:95274823-95274824
allele	C/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	JUN	chr8:95274312-95275227	K562	blood:	n/a	chr8:95274608-95274617
2	POLR2A	chr8:95264764-95275103	IMR90	lung:	n/a	n/a
3	USF1	chr8:95274355-95275032	SK-N-SH_RA	brain:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
4	REST	chr8:95274203-95274883	A549	lung:	n/a	n/a
5	USF1	chr8:95274466-95274897	SK-N-SH_RA	brain:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
6	FOSL2	chr8:95274272-95274887	A549	lung:	n/a	chr8:95274608-95274617
7	RAD21	chr8:95274407-95274841	HepG2	liver:	n/a	chr8:95274544-95274558
8	POLR2A	chr8:95270042-95274844	HCT-116	colon:	n/a	n/a
9	SP1	chr8:95274067-95274915	A549	lung:	n/a	n/a
10	WRNIP1	chr8:95273801-95275050	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:95274282-95274855	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:95274115-95274896	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr8:95274221-95274877	MCF-7	breast:	n/a	chr8:95274544-95274558
14	POLR2A	chr8:95273827-95274976	GM12891	blood:	n/a	n/a
15	RCOR1	chr8:95273871-95274878	GM12878	blood:	n/a	n/a
16	USF1	chr8:95274371-95275085	H1-hESC	embryonic stem cell:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
17	USF1	chr8:95274456-95274891	A549	lung:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
18	USF2	chr8:95274125-95274928	GM12878	blood:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274690-95274701 chr8:95274549-95274565
19	CEBPB	chr8:95274501-95274845	A549	lung:	n/a	n/a
20	USF1	chr8:95274505-95274962	K562	blood:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
21	EP300	chr8:95274362-95274826	H1-hESC	embryonic stem cell:	n/a	chr8:95274548-95274564 chr8:95274539-95274555 chr8:95274619-95274635 chr8:95274759-95274773 chr8:95274551-95274567
22	RAD21	chr8:95274308-95274915	MCF-7	breast:	n/a	chr8:95274544-95274558
23	EP300	chr8:95274363-95274825	T-47D	breast:	n/a	chr8:95274548-95274564 chr8:95274539-95274555 chr8:95274619-95274635 chr8:95274759-95274773 chr8:95274551-95274567
24	ATF2	chr8:95274203-95274898	GM12878	blood:	n/a	chr8:95274607-95274618
25	NFIC	chr8:95274425-95275013	GM12878	blood:	n/a	n/a
26	USF1	chr8:95274362-95275011	ECC-1	luminal epithelium:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
27	NFATC1	chr8:95274186-95274839	GM12878	blood:	n/a	n/a
28	RELA	chr8:95273979-95274966	GM15510	blood:	n/a	n/a
29	GATA3	chr8:95274131-95275644	SK-N-SH	brain:	n/a	chr8:95274908-95274919
30	POLR2A	chr8:95272370-95274824	PBDE	blood:	n/a	n/a
31	CREB1	chr8:95273951-95274902	GM12878	blood:	n/a	chr8:95274606-95274619
32	USF1	chr8:95274428-95274954	H1-hESC	embryonic stem cell:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
33	SIN3A	chr8:95274209-95274987	H1-hESC	embryonic stem cell:	n/a	chr8:95274557-95274568
34	POLR2A	chr8:95274096-95274876	SK-N-MC	brain:	n/a	n/a
35	GATA3	chr8:95274138-95275001	A549	lung:	n/a	chr8:95274908-95274919
36	HDAC2	chr8:95273991-95274867	MCF-7	breast:	n/a	chr8:95274760-95274774 chr8:95274761-95274775
37	MAX	chr8:95274214-95274868	SK-N-SH	brain:	n/a	chr8:95274691-95274700
38	EP300	chr8:95274283-95274866	A549	lung:	n/a	chr8:95274548-95274564 chr8:95274539-95274555 chr8:95274619-95274635 chr8:95274759-95274773 chr8:95274551-95274567
39	TBL1XR1	chr8:95274186-95274974	GM12878	blood:	n/a	n/a
40	SP1	chr8:95274142-95274905	A549	lung:	n/a	n/a
41	GATA2	chr8:95274240-95276524	SH-SY5Y	brain:	n/a	chr8:95276388-95276409 chr8:95274908-95274919 chr8:95276131-95276141
42	STAT3	chr8:95274512-95274850	MCF10A-Er-Src	breast:	n/a	n/a
43	TBP	chr8:95274188-95274875	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF1	chr8:95274472-95274983	A549	lung:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
45	EP300	chr8:95274158-95275475	SK-N-SH	brain:	n/a	chr8:95274548-95274564 chr8:95274539-95274555 chr8:95274619-95274635 chr8:95274759-95274773 chr8:95274551-95274567
46	USF1	chr8:95274307-95275035	SK-N-SH	brain:	n/a	chr8:95274546-95274562 chr8:95274538-95274554 chr8:95274552-95274568 chr8:95274549-95274565
47	MAX	chr8:95274203-95274848	H1-hESC	embryonic stem cell:	n/a	chr8:95274691-95274700
48	CTCF	chr8:95274760-95274910	GM12869	blood:	n/a	n/a
49	PML	chr8:95273800-95274894	GM12878	blood:	n/a	n/a
50	ZNF143	chr8:95273984-95274881	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GEM	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1050616	0.81[AMR][1000 genomes]
rs2250208	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445715	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470724	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470725	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470726	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
3	chr8:95272600-95275000	Active TSS	Esophagus	oesophagus
4	chr8:95272800-95275000	Active TSS	Ovary	ovary
5	chr8:95273200-95275000	Active TSS	Aorta	Aorta
6	chr8:95273200-95275000	Active TSS	Right Ventricle	heart
7	chr8:95273400-95275000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95273400-95275000	Active TSS	Right Atrium	heart
9	chr8:95273800-95275000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:95274000-95275000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:95274000-95275400	Enhancers	Spleen	Spleen
12	chr8:95274200-95275000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
13	chr8:95274200-95275000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
14	chr8:95274200-95275000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:95274200-95275000	Flanking Active TSS	HMEC	breast
16	chr8:95274400-95275000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:95274400-95275000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr8:95274400-95275200	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:95274600-95275000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:95274600-95275000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95274600-95275000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:95274600-95275000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:95274600-95275000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:95274600-95275000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr8:95274600-95275000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:95274600-95275000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:95274600-95275000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr8:95274600-95275000	Flanking Active TSS	Fetal Kidney	kidney
29	chr8:95274600-95275000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
30	chr8:95274600-95275000	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr8:95274600-95275000	Bivalent Enhancer	Dnd41	blood
32	chr8:95274600-95275000	Flanking Active TSS	NH-A	brain
33	chr8:95274600-95275200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr8:95274600-95275200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:95274600-95275200	Enhancers	Hela-S3	cervix
36	chr8:95274600-95275400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:95274600-95275400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:95274600-95275400	Enhancers	Placenta	Placenta
39	chr8:95274600-95275400	Enhancers	Lung	lung
40	chr8:95274600-95275600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:95274600-95275800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:95274600-95276200	Enhancers	Small Intestine	intestine
43	chr8:95274800-95275000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:95274800-95275000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr8:95274800-95275000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:95274800-95275000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:95274800-95275000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:95274800-95275000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr8:95274800-95275000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr8:95274800-95275000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links