Variant report

Variant	rs9982214
Chromosome Location	chr21:41217968-41217969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41215857..41218519-chr21:41265532..41267969,2	MCF-7	breast:
2	chr21:41214087..41216615-chr21:41216741..41221047,4	MCF-7	breast:
3	chr21:41208734..41211279-chr21:41216423..41218516,2	K562	blood:
4	chr21:41216229..41218575-chr21:41247366..41250074,2	K562	blood:
5	chr21:41217185..41219061-chr21:41222120..41225163,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1004663	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11701338	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12627540	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1984023	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205205	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244761	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837218	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2837219	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837221	0.86[ASN][1000 genomes]
rs2837223	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837225	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837226	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837227	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837229	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2837232	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837246	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2837247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837253	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837257	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837258	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2837259	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837260	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4337554	0.85[ASN][1000 genomes]
rs4818098	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7277375	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7278733	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs731592	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs741866	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs760285	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs760286	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9305680	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9974301	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9974413	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978994	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9979170	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9979395	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9980807	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9980954	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9982243	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9982859	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41199000-41219800	Weak transcription	Pancreas	Pancrea
2	chr21:41213400-41222800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:41213600-41223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:41217000-41218000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:41217200-41218400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:41217200-41218400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:41217400-41218400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:41217400-41218400	Enhancers	Fetal Muscle Leg	muscle
9	chr21:41217400-41219600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:41217800-41218000	Flanking Active TSS	NH-A	brain
11	chr21:41217800-41218400	Enhancers	Skeletal Muscle Male	skeletal muscle

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