Variant report

Variant	rs3134004
Chromosome Location	chr8:94969992-94969993
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	FOXA2	chr8:94969934-94970299	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:94969972-94970295	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:94969539-94969996	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr8:94969887-94970557	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr8:94969989-94970291	K562	blood:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
6	TCF12	chr8:94969904-94970535	A549	lung:	n/a	n/a
7	GATA3	chr8:94969946-94970706	MCF-7	breast:	n/a	chr8:94970229-94970238
8	GATA3	chr8:94969827-94970856	MCF-7	breast:	n/a	chr8:94970229-94970238
9	GATA3	chr8:94969851-94970415	A549	lung:	n/a	chr8:94970229-94970238
10	CEBPB	chr8:94969873-94970337	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
11	CEBPB	chr8:94969989-94970297	HepG2	liver:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
12	GATA3	chr8:94969747-94970802	SK-N-SH	brain:	n/a	chr8:94970229-94970238
13	FOXA1	chr8:94969966-94970603	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:94969881-94970392	MCF-7	breast:	n/a	chr8:94970130-94970143 chr8:94970130-94970141 chr8:94970130-94970143 chr8:94970132-94970141 chr8:94970132-94970143
15	FOXA1	chr8:94969919-94970294	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94927101..94932217-chr8:94967169..94973451,6	MCF-7	breast:

Variant related genes	Relation type
RPL34P18	TF binding region
ENSG00000164951	Chromatin interaction
ENSG00000264448	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs16916320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16916327	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3115916	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115917	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115918	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115919	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115920	0.87[ASN][1000 genomes]
rs3115921	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3115925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs3115926	1.00[EUR][1000 genomes]
rs3115927	1.00[EUR][1000 genomes]
rs3115931	1.00[EUR][1000 genomes]
rs3115936	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115937	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133986	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133988	1.00[EUR][1000 genomes]
rs3133989	1.00[EUR][1000 genomes]
rs3133990	1.00[EUR][1000 genomes]
rs3133993	1.00[EUR][1000 genomes]
rs3133997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133998	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133999	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134002	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134011	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134016	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55691744	1.00[EUR][1000 genomes]
rs55914182	1.00[EUR][1000 genomes]
rs58454714	1.00[EUR][1000 genomes]
rs58866863	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59023505	1.00[EUR][1000 genomes]
rs59797932	1.00[EUR][1000 genomes]
rs61294318	1.00[EUR][1000 genomes]
rs61495155	0.89[EUR][1000 genomes]
rs61708878	1.00[EUR][1000 genomes]
rs62522980	1.00[EUR][1000 genomes]
rs62522989	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523005	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62523006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523009	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62523010	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62523011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62523014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523016	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62523017	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523018	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62523019	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6983462	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6989092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs6997830	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7006289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv982128	chr8:94966644-94973304	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv971337	chr8:94969168-94970266	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94965600-94971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:94965800-94970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:94967600-94970200	Weak transcription	Left Ventricle	heart
4	chr8:94968000-94973200	Weak transcription	Ovary	ovary
5	chr8:94968000-94973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:94968200-94970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:94968600-94970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:94968600-94973400	Enhancers	Fetal Intestine Large	intestine
9	chr8:94968600-94973600	Enhancers	Fetal Intestine Small	intestine
10	chr8:94968800-94970800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:94969200-94970200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:94969200-94970200	Weak transcription	HUVEC	blood vessel
13	chr8:94969400-94971400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:94969600-94970000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:94969600-94970400	Bivalent Enhancer	HepG2	liver
16	chr8:94969600-94970600	Enhancers	Pancreas	Pancrea
17	chr8:94969600-94970800	Enhancers	Liver	Liver
18	chr8:94969800-94970600	Enhancers	Fetal Lung	lung

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