Variant report

Variant	rs288064
Chromosome Location	chr2:210369449-210369450
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	chr2:210363883..210366615-chr2:210368582..210372932,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10173260	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10208979	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1031461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10737939	0.93[ASN][1000 genomes]
rs10737940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11686346	0.99[ASN][1000 genomes]
rs11687844	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12052799	0.93[ASN][1000 genomes]
rs12053460	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2123700	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2198475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2198476	0.99[ASN][1000 genomes]
rs2198477	0.99[ASN][1000 genomes]
rs2198478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2219085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2365657	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2365658	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288046	0.93[ASN][1000 genomes]
rs288062	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs288067	0.98[ASN][1000 genomes]
rs288068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2886435	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2886436	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672554	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4673481	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4673482	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6435530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6435531	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6728378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738205	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559831	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7561678	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7562585	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7568354	0.93[ASN][1000 genomes]
rs7574854	0.97[ASN][1000 genomes]
rs7580512	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7586196	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7593377	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7601095	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs852734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs997109	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[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	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210361800-210376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:210363600-210370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:210363600-210378400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:210364600-210387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:210364600-210392200	Weak transcription	Pancreas	Pancrea
6	chr2:210366400-210371200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:210366600-210387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:210368600-210372800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:210369000-210371600	Weak transcription	Fetal Brain Female	brain
10	chr2:210369200-210369600	Active TSS	Right Atrium	heart
11	chr2:210369200-210369800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:210369200-210370200	Active TSS	Aorta	Aorta
13	chr2:210369400-210369800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210369400-210369800	Active TSS	Pancreatic Islets	Pancreatic Islet

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