Variant report

Variant	rs2451339
Chromosome Location	chr6:34089286-34089287
allele	C/G
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	chr6:34089204..34090840-chr6:34093594..34095783,2	K562	blood:
4	chr6:34088698..34090273-chr6:34113545..34115609,2	K562	blood:
5	chr6:34040958..34043775-chr6:34088032..34089661,2	MCF-7	breast:
6	chr6:34088437..34090198-chr6:34113629..34115609,2	K562	blood:

Variant related genes	Relation type
ENSG00000124493	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1075482	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1109654	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11753413	0.84[ASN][1000 genomes]
rs12205473	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12525536	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12528906	0.83[ASN][1000 genomes]
rs1565357	0.92[EUR][1000 genomes]
rs2451337	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2499722	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2499724	0.94[EUR][1000 genomes]
rs2499725	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2499726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2499728	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2499729	0.88[ASN][1000 genomes]
rs2499730	0.88[ASN][1000 genomes]
rs2499732	0.82[ASN][1000 genomes]
rs4713739	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713740	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713741	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713742	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713743	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs744102	0.89[EUR][1000 genomes]
rs923498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368794	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394188	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394189	0.88[EUR][1000 genomes];0.92[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:11 , 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	chr6:34088200-34089400	Enhancers	Fetal Stomach	stomach
4	chr6:34088200-34090200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:34088400-34093600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:34089000-34089600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:34089000-34090400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:34089000-34091600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:34089200-34089400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr6:34089200-34089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:34089200-34089600	Bivalent Enhancer	Placenta	Placenta

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