Variant report

Variant	rs9979170
Chromosome Location	chr21:41217173-41217174
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:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004663	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701338	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12627540	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984023	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2205205	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2244761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837218	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2837219	0.88[ASN][1000 genomes]
rs2837221	0.88[ASN][1000 genomes]
rs2837223	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837225	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837226	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837227	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837229	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837232	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837246	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2837247	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837249	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2837253	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837257	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837259	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2837260	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4337554	0.87[ASN][1000 genomes]
rs4818098	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277375	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7278733	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs731592	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs741866	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760285	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760286	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9305680	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9974301	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9974413	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9978994	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9979395	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9980807	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9980954	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9982214	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9982243	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9982859	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
6	esv3522074	chr21:41216907-41217270	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3522073	chr21:41216923-41217215	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3425838	chr21:41216928-41217334	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv3522076	chr21:41216937-41217207	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv3455381	chr21:41216942-41217224	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv3455382	chr21:41216942-41217224	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	esv3339678	chr21:41216943-41217225	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
13	esv3522077	chr21:41216995-41217183	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
14	esv3449573	chr21:41217020-41217311	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 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	chr21:41216800-41217400	Enhancers	NH-A	brain
5	chr21:41217000-41217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:41217000-41217400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:41217000-41218000	Enhancers	Placenta Amnion	Placenta Amnion

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