Variant report

Variant	rs12543862
Chromosome Location	chr8:20400341-20400342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20400252..20401136-chr8:20408626..20409143,2	MCF-7	breast:
2	chr8:20400181..20400690-chr8:20854628..20855500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253178	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10503681	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11991803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545547	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273637	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1383247	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17092725	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17092753	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092762	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092764	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092765	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092766	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975993	0.91[ASN][1000 genomes]
rs2170173	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464950	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4307359	0.92[ASN][1000 genomes]
rs4921722	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922214	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991023	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73218493	0.83[ASN][1000 genomes]
rs73218494	0.84[ASN][1000 genomes]
rs73218495	0.83[ASN][1000 genomes]
rs73218499	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73218500	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73218501	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73220413	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:20399400-20400400	Enhancers	Fetal Heart	heart
2	chr8:20399800-20400400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:20399800-20400600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:20399800-20400600	Enhancers	Left Ventricle	heart
5	chr8:20400000-20400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:20400000-20400800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:20400000-20401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:20400200-20400400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:20400200-20400400	Enhancers	Fetal Intestine Small	intestine
10	chr8:20400200-20400600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:20400200-20400600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:20400200-20400600	Enhancers	Fetal Intestine Large	intestine
13	chr8:20400200-20400800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr8:20400200-20400800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:20400200-20401000	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:20400200-20401000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:20400200-20401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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