Variant report

Variant	rs1002383
Chromosome Location	chr1:210312704-210312705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10127635	0.88[AMR][1000 genomes]
rs11119393	0.83[AMR][1000 genomes]
rs11119395	0.83[AMR][1000 genomes]
rs11119397	0.83[AMR][1000 genomes]
rs11119405	0.88[AMR][1000 genomes]
rs11119408	0.88[AMR][1000 genomes]
rs11119411	0.88[AMR][1000 genomes]
rs12059259	0.83[AMR][1000 genomes]
rs12079711	0.83[AMR][1000 genomes]
rs12082067	0.83[AMR][1000 genomes]
rs12089636	0.83[AMR][1000 genomes]
rs12093254	0.83[AMR][1000 genomes]
rs12239153	0.83[AMR][1000 genomes]
rs1413698	0.83[AMR][1000 genomes]
rs1591300	0.83[AMR][1000 genomes]
rs17015561	0.83[AMR][1000 genomes]
rs17015638	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17015652	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2130626	0.88[AMR][1000 genomes]
rs2130627	0.88[AMR][1000 genomes]
rs2130628	0.88[AMR][1000 genomes]
rs35046399	0.83[AMR][1000 genomes]
rs58775140	0.83[AMR][1000 genomes]
rs6540577	0.83[AMR][1000 genomes]
rs6689269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536495	0.83[AMR][1000 genomes]
rs978754	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv468072	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv549104	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv549105	chr1:210304319-210338397	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210311400-210313600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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