Variant report

Variant	rs1746747
Chromosome Location	chr1:76142695-76142696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76141089..76142781-chr1:76250261..76252071,2	K562	blood:
2	chr1:76140961..76144068-chr1:76250261..76252961,3	K562	blood:
3	chr1:76140670..76143009-chr1:76255806..76258053,2	K562	blood:
4	chr1:76138718..76140997-chr1:76142345..76144918,2	K562	blood:

Variant related genes	Relation type
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1093007	0.91[AMR][1000 genomes]
rs1146585	0.83[AMR][1000 genomes]
rs1146589	0.83[AMR][1000 genomes]
rs1146590	1.00[EUR][1000 genomes]
rs12070736	1.00[MEX][hapmap]
rs12079369	1.00[MEX][hapmap]
rs12091293	1.00[MEX][hapmap]
rs1250879	0.83[AMR][1000 genomes]
rs1251066	0.83[AMR][1000 genomes]
rs1251074	0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs1694423	0.83[AMR][1000 genomes]
rs1759274	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1759275	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211714	0.81[LWK][hapmap];1.00[MEX][hapmap]
rs211720	0.81[LWK][hapmap];1.00[MEX][hapmap]
rs381183	0.91[AMR][1000 genomes]
rs445008	0.91[AMR][1000 genomes]
rs696678	0.91[AMR][1000 genomes]
rs699678	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699687	0.91[AMR][1000 genomes]
rs699823	1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs814854	0.91[AMR][1000 genomes]
rs9437227	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76138800-76143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:76139000-76142800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:76139000-76143000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:76139000-76143400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:76139200-76143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:76141800-76143800	Active TSS	K562	blood
7	chr1:76142000-76143400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:76142000-76143800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:76142200-76143800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:76142400-76143800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:76142600-76142800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:76142600-76144000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:76142600-76144000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:76142600-76144000	Active TSS	HepG2	liver

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