Variant report

Variant	rs6934648
Chromosome Location	chr6:54380427-54380428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10498798	1.00[ASN][1000 genomes]
rs12661641	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12662777	1.00[ASN][1000 genomes]
rs12663176	1.00[ASN][1000 genomes]
rs12664738	0.92[ASN][1000 genomes]
rs12664960	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12664985	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1555533	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2294726	1.00[ASN][1000 genomes]
rs2294727	1.00[ASN][1000 genomes]
rs2294728	1.00[ASN][1000 genomes]
rs2894819	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4487577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6922084	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6927952	1.00[ASN][1000 genomes]
rs6932400	1.00[ASN][1000 genomes]
rs73435933	0.88[ASN][1000 genomes]
rs7451920	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7760300	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv427757	chr6:54296552-54507210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv885889	chr6:54339930-54458991	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv885890	chr6:54339930-54460646	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv885891	chr6:54344853-54425876	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv885892	chr6:54344853-54458991	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv885893	chr6:54344853-54460646	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv885894	chr6:54350048-54452797	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv885895	chr6:54350048-54456869	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv885896	chr6:54350048-54458991	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv885897	chr6:54350048-54460646	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1849986	chr6:54376524-54441359	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv885898	chr6:54376524-54458991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54361600-54391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:54380000-54381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:54380000-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:54380400-54380800	Enhancers	NHEK	skin
5	chr6:54380400-54381400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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