Variant report

Variant	rs13034094
Chromosome Location	chr2:208979798-208979799
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	EBF1	chr2:208979719-208979944	GM12878	blood:	n/a	n/a
2	EBF1	chr2:208979727-208979939	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208973001..208975909-chr2:208979754..208981880,3	MCF-7	breast:

Variant related genes	Relation type
CRYGEP	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10178641	0.84[ASN][1000 genomes]
rs10188278	0.82[ASN][1000 genomes]
rs10188286	0.82[ASN][1000 genomes]
rs1020581	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497893	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677829	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684908	0.94[ASN][1000 genomes]
rs11690797	0.90[ASN][1000 genomes]
rs13006347	0.94[ASN][1000 genomes]
rs13403189	0.81[EUR][1000 genomes]
rs1806338	0.93[ASN][1000 genomes]
rs2084872	0.95[ASN][1000 genomes]
rs2601492	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2601493	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2601494	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2601495	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2854722	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34126491	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34252721	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34274138	0.95[ASN][1000 genomes]
rs34577840	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589201	0.95[ASN][1000 genomes]
rs34765959	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35960349	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55770589	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999272	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60163320	0.90[ASN][1000 genomes]
rs6435407	0.84[ASN][1000 genomes]
rs6435411	0.95[ASN][1000 genomes]
rs6709879	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716279	0.95[ASN][1000 genomes]
rs6744189	0.84[ASN][1000 genomes]
rs6745137	0.95[ASN][1000 genomes]
rs6745370	0.95[ASN][1000 genomes]
rs6747966	0.84[ASN][1000 genomes]
rs6751131	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6757791	0.83[ASN][1000 genomes]
rs6758319	0.83[ASN][1000 genomes]
rs6759995	0.95[ASN][1000 genomes]
rs6761316	0.84[ASN][1000 genomes]
rs67900982	0.84[ASN][1000 genomes]
rs732008	0.95[ASN][1000 genomes]
rs732009	0.95[ASN][1000 genomes]
rs7349197	0.95[ASN][1000 genomes]
rs7586866	0.94[ASN][1000 genomes]
rs7586953	0.94[ASN][1000 genomes]
rs7587397	0.94[ASN][1000 genomes]
rs7590593	0.95[ASN][1000 genomes]
rs7604207	0.95[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208978000-208988400	Weak transcription	Fetal Brain Female	brain
3	chr2:208978200-208983000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:208978400-208988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:208978600-208982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:208978600-208983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:208978600-208986200	Weak transcription	H9 Cell Line	embryonic stem cell

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