Variant report

Variant	rs2511576
Chromosome Location	chr8:105234814-105234815
allele	C/T
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	CEBPB	chr8:105234414-105234818	A549	lung:	n/a	chr8:105234647-105234660 chr8:105234649-105234660 chr8:105234647-105234660 chr8:105234647-105234660 chr8:105234649-105234660
2	STAT3	chr8:105234727-105234816	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr8:105234740-105234931	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RIMS2	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1026058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1031228	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1031230	0.97[EUR][1000 genomes]
rs1447070	0.97[EUR][1000 genomes]
rs1447073	0.96[EUR][1000 genomes]
rs1562402	0.97[EUR][1000 genomes]
rs1900521	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249124	0.98[EUR][1000 genomes]
rs2441791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441800	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2441801	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2441805	0.97[EUR][1000 genomes]
rs2441806	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441807	0.97[EUR][1000 genomes]
rs2441808	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441809	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441811	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441812	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2441886	0.97[EUR][1000 genomes]
rs2441887	0.97[EUR][1000 genomes]
rs2441890	0.97[EUR][1000 genomes]
rs2441891	0.97[EUR][1000 genomes]
rs2441900	0.98[EUR][1000 genomes]
rs2441901	0.97[EUR][1000 genomes]
rs2441921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2511564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs2511566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2511569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2511573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511584	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511586	0.97[EUR][1000 genomes]
rs2511588	0.97[EUR][1000 genomes]
rs2511589	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511591	0.97[EUR][1000 genomes]
rs2511639	0.97[EUR][1000 genomes]
rs2511645	0.98[EUR][1000 genomes]
rs28685021	0.83[ASN][1000 genomes]
rs3133283	0.94[EUR][1000 genomes]
rs72685059	0.81[ASN][1000 genomes]
rs72685060	0.83[ASN][1000 genomes]
rs72685066	0.82[ASN][1000 genomes]
rs72685070	0.82[ASN][1000 genomes]
rs7834250	0.88[JPT][hapmap]
rs875503	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105234600-105235000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:105234600-105235000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:105234600-105235000	Enhancers	HMEC	breast
4	chr8:105234600-105235000	Enhancers	NHEK	skin
5	chr8:105234800-105235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:105234800-105235000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:105234800-105235000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:105234800-105235000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr8:105234800-105235000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr8:105234800-105235000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:105234800-105235000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr8:105234800-105235000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:105234800-105235200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:105234800-105235200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:105234800-105235400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:105234800-105236000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:105234800-105236400	Active TSS	Brain Substantia Nigra	brain

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