Variant report

Variant	rs4713742
Chromosome Location	chr6:34089594-34089595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34088693..34091598-chr6:34099437..34101000,2	K562	blood:
2	chr6:34088239..34091106-chr6:34093454..34095968,3	MCF-7	breast:
3	chr6:34078185..34080226-chr6:34089432..34092745,3	K562	blood:
4	chr6:34089204..34090840-chr6:34093594..34095783,2	K562	blood:
5	chr6:34088698..34090273-chr6:34113545..34115609,2	K562	blood:
6	chr6:34040958..34043775-chr6:34088032..34089661,2	MCF-7	breast:
7	chr6:34088437..34090198-chr6:34113629..34115609,2	K562	blood:

Variant related genes	Relation type
ENSG00000124493	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1075482	0.82[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1109654	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11753413	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12205473	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525536	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12528906	0.88[ASN][1000 genomes]
rs1565357	0.85[EUR][1000 genomes]
rs2451337	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451339	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2499722	0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2499724	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2499725	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2499726	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2499728	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2499729	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2499730	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2499732	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4713739	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713740	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4713741	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713744	0.83[EUR][1000 genomes]
rs6918514	0.83[EUR][1000 genomes]
rs6918977	0.83[EUR][1000 genomes]
rs6928019	0.85[ASN][1000 genomes]
rs744102	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs923498	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368794	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394188	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9394189	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv885779	chr6:34046131-34103662	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv885780	chr6:34050917-34131376	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
2	chr6:34067000-34097000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:34088200-34090200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:34088400-34093600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:34089000-34089600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:34089000-34090400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:34089000-34091600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:34089200-34089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34089200-34089600	Bivalent Enhancer	Placenta	Placenta
10	chr6:34089400-34089600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:34089400-34089600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:34089400-34090800	Bivalent Enhancer	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links