Variant report

Variant	rs6675627
Chromosome Location	chr1:62767347-62767348
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	E2F6	chr1:62767306-62768019	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:62767331-62768008	H1-hESC	embryonic stem cell:	n/a	chr1:62767575-62767586 chr1:62767574-62767587 chr1:62767575-62767585 chr1:62767576-62767585 chr1:62767576-62767586 chr1:62767576-62767586 chr1:62767574-62767589 chr1:62767567-62767583 chr1:62767576-62767586 chr1:62767575-62767586 chr1:62767577-62767586

Variant related genes	Relation type
RNU6-371P	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10157938	0.94[ASN][1000 genomes]
rs10465842	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10889318	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749514	0.89[ASN][1000 genomes]
rs1325740	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886833	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1886834	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925827	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2366207	0.87[ASN][1000 genomes]
rs2477874	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2666509	0.86[ASN][1000 genomes]
rs2765266	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2765268	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2765269	0.89[ASN][1000 genomes]
rs35126231	0.87[ASN][1000 genomes]
rs4915606	0.89[ASN][1000 genomes]
rs4915607	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6587966	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658312	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6675508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514266	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7528920	0.90[ASN][1000 genomes]
rs881548	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3320078	chr1:62765222-62770871	Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3320079	chr1:62765252-62770865	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3320077	chr1:62765307-62770822	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3320080	chr1:62765307-62770822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv520333	chr1:62766527-62769887	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:62762200-62773200	Weak transcription	Fetal Lung	lung
4	chr1:62764800-62768000	Enhancers	Pancreas	Pancrea
5	chr1:62765000-62767600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:62765000-62768000	Enhancers	Fetal Stomach	stomach
7	chr1:62765200-62767600	Genic enhancers	HepG2	liver
8	chr1:62765600-62767800	Enhancers	Brain Substantia Nigra	brain
9	chr1:62766000-62768600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:62766000-62770000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:62766000-62770200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:62766200-62767800	Weak transcription	Fetal Heart	heart
13	chr1:62766400-62767600	Weak transcription	Fetal Kidney	kidney
14	chr1:62766800-62768000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:62766800-62770200	Weak transcription	Gastric	stomach
16	chr1:62767000-62767600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr1:62767000-62768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:62767000-62769000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:62767200-62767400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr1:62767200-62767600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:62767200-62767600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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