Variant report

Variant	rs4844950
Chromosome Location	chr1:210312963-210312964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1040425	0.92[EUR][1000 genomes]
rs10489346	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs10779521	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10863800	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs10863809	0.81[ASN][1000 genomes]
rs11119403	0.82[ASN][1000 genomes]
rs11119415	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119417	1.00[ASN][1000 genomes]
rs11119419	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119420	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119445	1.00[CEU][hapmap]
rs12061641	0.82[ASN][1000 genomes]
rs12073617	0.82[ASN][1000 genomes]
rs12079916	0.90[ASN][1000 genomes]
rs12088422	0.89[ASN][1000 genomes]
rs12089327	0.91[ASN][1000 genomes]
rs12092527	0.89[ASN][1000 genomes]
rs12406136	0.88[ASN][1000 genomes]
rs12409047	0.90[ASN][1000 genomes]
rs12566105	0.94[ASN][1000 genomes]
rs12569033	0.82[ASN][1000 genomes]
rs1387932	0.81[ASN][1000 genomes]
rs17015564	0.81[ASN][1000 genomes]
rs17015565	0.81[ASN][1000 genomes]
rs17015566	0.81[ASN][1000 genomes]
rs17015667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2151940	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4844509	0.94[ASN][1000 genomes]
rs4844923	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs4844940	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4844943	0.81[ASN][1000 genomes]
rs4844944	0.82[ASN][1000 genomes]
rs4844955	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs646906	1.00[CEU][hapmap]
rs713114	0.85[CHB][hapmap]
rs72649948	0.81[ASN][1000 genomes]
rs72649949	0.81[ASN][1000 genomes]
rs72649955	0.94[ASN][1000 genomes]
rs72649956	0.89[ASN][1000 genomes]
rs72649959	0.88[ASN][1000 genomes]
rs72649960	0.88[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	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: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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