Variant report

Variant	rs2298451
Chromosome Location	chr21:37881829-37881830
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	chr21:37869833..37874104-chr21:37880007..37884528,4	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11088351	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124801	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11701001	0.86[ASN][1000 genomes]
rs13052197	0.85[ASN][1000 genomes]
rs2012586	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2187301	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2226830	0.83[EUR][1000 genomes]
rs2409820	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2835367	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2835368	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2835369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2835371	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2835373	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2835374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835375	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835376	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2835377	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2835379	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816538	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4817804	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4817805	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5027467	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6517354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7278261	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7279532	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8127112	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127879	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8130049	0.83[ASN][1000 genomes]
rs915750	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9305585	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9305586	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305587	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974188	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981161	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9982353	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
2	chr21:37878800-37882200	Weak transcription	Fetal Lung	lung
3	chr21:37879800-37883600	Enhancers	Fetal Muscle Leg	muscle
4	chr21:37880200-37882200	Weak transcription	NHEK	skin
5	chr21:37880200-37882800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:37880400-37882200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:37880400-37882200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:37880400-37882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:37880600-37882600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:37880600-37882600	Weak transcription	Fetal Kidney	kidney
11	chr21:37880800-37883600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:37881000-37882200	Weak transcription	GM12878-XiMat	blood
13	chr21:37881000-37883800	Enhancers	Placenta	Placenta
14	chr21:37881400-37883200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr21:37881400-37884000	Enhancers	Esophagus	oesophagus
16	chr21:37881600-37883600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr21:37881800-37883400	Weak transcription	Gastric	stomach

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