Variant report

Variant	rs6870634
Chromosome Location	chr5:101567778-101567779
allele	A/G
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	CREB1	chr5:101567381-101567853	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:101567602-101568109	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000268424	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10077904	0.85[AFR][1000 genomes]
rs1030238	0.82[ASN][1000 genomes]
rs1039291	0.81[ASN][1000 genomes]
rs10463967	0.96[ASN][1000 genomes]
rs11949650	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657697	0.95[ASN][1000 genomes]
rs41403944	0.96[ASN][1000 genomes]
rs4703214	0.82[ASN][1000 genomes]
rs4703217	0.99[ASN][1000 genomes]
rs60420300	0.82[ASN][1000 genomes]
rs60927589	0.82[ASN][1000 genomes]
rs61070092	0.82[ASN][1000 genomes]
rs6596425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67736259	0.82[ASN][1000 genomes]
rs6863136	0.82[ASN][1000 genomes]
rs6869235	0.80[ASN][1000 genomes]
rs73185448	0.95[ASN][1000 genomes]
rs73185482	0.99[ASN][1000 genomes]
rs7719298	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7725294	0.81[AMR][1000 genomes]
rs7725428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1022551	chr5:101366177-101649643	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv882505	chr5:101397849-101652251	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1028787	chr5:101432086-101718569	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030146	chr5:101481484-101575463	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6870634	SLCO4C1	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101559600-101568200	Weak transcription	Liver	Liver
2	chr5:101566000-101568000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:101566000-101584400	Weak transcription	Primary T cells from cord blood	blood
4	chr5:101566200-101568000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:101566200-101568200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:101566400-101568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:101566600-101568200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:101567200-101568400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:101567400-101568800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:101567400-101585000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:101567600-101567800	Weak transcription	Fetal Intestine Large	intestine
12	chr5:101567600-101568200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links