Variant report

Variant	rs2319798
Chromosome Location	chr4:69043722-69043723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:68784466..68787667-chr4:69042128..69044915,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10014942	0.94[AFR][1000 genomes]
rs10026575	0.85[YRI][hapmap]
rs11131739	0.80[ASN][1000 genomes]
rs11731769	0.82[ASN][1000 genomes]
rs12502214	0.83[ASN][1000 genomes]
rs12502710	0.90[AFR][1000 genomes]
rs12502757	0.82[ASN][1000 genomes]
rs12502946	0.82[ASN][1000 genomes]
rs12504557	0.82[ASN][1000 genomes]
rs12505965	0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs12506837	0.80[ASN][1000 genomes]
rs12507309	0.82[ASN][1000 genomes]
rs13132990	0.80[ASN][1000 genomes]
rs13147736	0.80[ASN][1000 genomes]
rs13148584	0.80[ASN][1000 genomes]
rs1320263	0.93[AFR][1000 genomes]
rs1320264	0.80[ASN][1000 genomes]
rs1438391	1.00[CEU][hapmap]
rs1814948	0.82[AFR][1000 genomes]
rs2319791	0.90[AFR][1000 genomes]
rs2319792	0.92[AFR][1000 genomes]
rs2319793	0.80[ASN][1000 genomes]
rs2319877	0.87[AFR][1000 genomes]
rs2319878	0.81[AFR][1000 genomes]
rs2874105	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs34237875	0.82[ASN][1000 genomes]
rs4241689	0.92[ASW][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs4241690	0.92[ASW][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4860280	0.84[YRI][hapmap]
rs4860282	0.80[ASN][1000 genomes]
rs4860908	0.82[ASN][1000 genomes]
rs6552158	0.92[AFR][1000 genomes]
rs66943336	0.82[ASN][1000 genomes]
rs6819568	0.80[ASN][1000 genomes]
rs6827417	0.80[ASN][1000 genomes]
rs6835461	0.87[AFR][1000 genomes]
rs6844906	0.84[YRI][hapmap]
rs939206	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805370	chr4:68789778-69043722	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69041200-69046600	Weak transcription	NHEK	skin
2	chr4:69043000-69046600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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