Variant report

Variant	rs2009191
Chromosome Location	chr14:68377707-68377708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68369979..68371799-chr14:68376616..68378250,2	MCF-7	breast:
2	chr14:68377483..68380217-chr14:69257926..69260527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10129355	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10129612	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10130829	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10132022	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133262	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133883	0.87[EUR][1000 genomes]
rs10136129	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136174	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136790	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136868	0.85[EUR][1000 genomes]
rs10139548	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10140097	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140282	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143455	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143843	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144995	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148527	0.98[ASN][1000 genomes]
rs10151387	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467735	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873210	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158715	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158716	0.81[EUR][1000 genomes]
rs11158717	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11622135	0.83[EUR][1000 genomes]
rs11622243	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622787	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623355	0.87[EUR][1000 genomes]
rs11623984	0.87[EUR][1000 genomes]
rs11624609	0.82[EUR][1000 genomes]
rs11626280	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844529	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11846344	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848187	0.83[EUR][1000 genomes]
rs11848769	0.83[EUR][1000 genomes]
rs11850191	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850946	0.84[EUR][1000 genomes]
rs11852180	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852208	0.82[EUR][1000 genomes]
rs12100584	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431697	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432681	0.87[EUR][1000 genomes]
rs12435554	0.84[EUR][1000 genomes]
rs12437178	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437276	0.83[EUR][1000 genomes]
rs13329056	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17104764	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104776	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17104800	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17192558	0.84[EUR][1000 genomes]
rs17192586	0.83[EUR][1000 genomes]
rs17783304	0.84[EUR][1000 genomes]
rs1950767	0.98[ASN][1000 genomes]
rs1980654	0.87[EUR][1000 genomes]
rs1980655	0.87[EUR][1000 genomes]
rs2093358	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2208596	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28444723	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470365	0.80[EUR][1000 genomes]
rs28474827	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28474995	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28488544	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509330	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2877369	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855496	0.98[ASN][1000 genomes]
rs34588410	0.83[EUR][1000 genomes]
rs34723132	0.84[EUR][1000 genomes]
rs4436722	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902533	0.98[ASN][1000 genomes]
rs4902535	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902536	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902538	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902539	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902540	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902544	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57990032	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58151429	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60201005	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60415085	0.95[ASN][1000 genomes]
rs60471554	0.87[EUR][1000 genomes]
rs6573800	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573801	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573805	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573814	0.87[EUR][1000 genomes]
rs7142112	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142210	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142860	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145044	0.84[EUR][1000 genomes]
rs7145771	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146354	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151917	0.84[EUR][1000 genomes]
rs7154646	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155097	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155840	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155985	0.84[EUR][1000 genomes]
rs7157185	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158544	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160115	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161069	0.87[EUR][1000 genomes]
rs72725141	0.84[EUR][1000 genomes]
rs72725149	0.84[EUR][1000 genomes]
rs72725151	0.83[EUR][1000 genomes]
rs72725153	0.83[EUR][1000 genomes]
rs72725157	0.83[EUR][1000 genomes]
rs72725165	0.82[EUR][1000 genomes]
rs72725168	0.83[EUR][1000 genomes]
rs72725170	0.83[EUR][1000 genomes]
rs8006437	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006492	0.87[EUR][1000 genomes]
rs8013677	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016525	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020795	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323501	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672142	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68368400-68382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68375600-68377800	Weak transcription	Fetal Lung	lung
3	chr14:68375600-68385400	Weak transcription	Fetal Kidney	kidney
4	chr14:68377000-68378200	Enhancers	Fetal Stomach	stomach
5	chr14:68377200-68377800	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:68377400-68378000	Enhancers	Fetal Muscle Leg	muscle
7	chr14:68377400-68378600	Enhancers	Ovary	ovary
8	chr14:68377600-68377800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:68377600-68378000	Enhancers	Psoas Muscle	Psoas

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