Variant report

Variant	rs6701631
Chromosome Location	chr1:210318417-210318418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11119426	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119430	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119432	0.84[AMR][1000 genomes]
rs12045428	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1556606	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015638	0.84[AFR][1000 genomes]
rs17015652	0.95[YRI][hapmap]
rs17015701	0.83[ASW][hapmap];0.94[CEU][hapmap];0.85[LWK][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs2357430	0.85[AMR][1000 genomes]
rs2485896	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4844949	0.85[ASN][1000 genomes]
rs4844953	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55976039	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7519328	0.91[EUR][1000 genomes]
rs7534723	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7543674	0.85[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	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
8	nsv873146	chr1:210312760-210347417	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210318000-210319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:210318000-210319800	Enhancers	HMEC	breast
3	chr1:210318200-210318800	Enhancers	NHEK	skin
4	chr1:210318200-210319200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:210318200-210319400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210318400-210318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:210318400-210319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	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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