Variant report

Variant	rs2910698
Chromosome Location	chr5:37843695-37843696
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	POLR2A	chr5:37843562-37843715	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37839871..37842417-chr5:37842756..37845550,3	MCF-7	breast:

Variant related genes	Relation type
GDNF	TF binding region
ENSG00000248587	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10060017	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13361833	0.86[ASN][1000 genomes]
rs1423448	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075680	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075681	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366621	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910692	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910694	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910700	0.91[ASN][1000 genomes]
rs2910701	0.86[ASN][1000 genomes]
rs2910705	0.85[ASN][1000 genomes]
rs2910706	0.85[ASN][1000 genomes]
rs2910707	0.86[ASN][1000 genomes]
rs2910749	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2910757	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910759	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910760	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910797	0.86[ASN][1000 genomes]
rs2973035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973036	0.81[ASN][1000 genomes]
rs2973045	0.84[ASN][1000 genomes]
rs2973046	0.85[ASN][1000 genomes]
rs2973047	0.86[ASN][1000 genomes]
rs2973107	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973112	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973117	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973118	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973119	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973120	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973122	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67720228	0.85[ASN][1000 genomes]
rs884344	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37841000-37850400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37841200-37848000	Weak transcription	Psoas Muscle	Psoas
3	chr5:37841400-37848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:37841600-37846800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:37841600-37847000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:37841600-37847600	Weak transcription	HMEC	breast
7	chr5:37841800-37844200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:37841800-37846600	Weak transcription	NHEK	skin
9	chr5:37842600-37848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:37843600-37843800	Bivalent Enhancer	Placenta	Placenta
11	chr5:37843600-37844000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr5:37843600-37844000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:37843600-37844600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:37843600-37844600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr5:37843600-37845000	Enhancers	Fetal Kidney	kidney
16	chr5:37843600-37845400	Enhancers	Fetal Stomach	stomach

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