Variant report

Variant	rs975479
Chromosome Location	chr21:40830022-40830023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40816194..40819113-chr21:40826557..40830216,3	K562	blood:
2	chr21:40828843..40832099-chr21:40833036..40837122,3	K562	blood:
3	chr21:40821968..40825719-chr21:40825995..40830907,7	K562	blood:
4	chr21:40828806..40830343-chr21:40833036..40834564,2	K562	blood:
5	chr21:40818424..40820696-chr21:40828473..40830709,2	K562	blood:

Variant related genes	Relation type
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11088476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1722873	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1735136	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1735137	1.00[ASW][hapmap];0.82[CHB][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2063999	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277788	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2410157	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3787925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4358205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4389391	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4608607	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6517551	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517552	0.82[CHB][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7277386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs760284	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8127431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8129943	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8130752	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680225	0.90[EUR][1000 genomes]
rs975934	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9979083	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9982529	0.82[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	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
3	esv3446066	chr21:40828257-40830530	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3405422	chr21:40828732-40830080	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:40825600-40836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
5	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:40827600-40831400	Weak transcription	Psoas Muscle	Psoas
7	chr21:40827800-40835200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:40828200-40839600	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:40828400-40835400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:40828600-40835400	Weak transcription	Left Ventricle	heart
11	chr21:40828600-40835600	Weak transcription	Brain Hippocampus Middle	brain
12	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40828800-40834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr21:40828800-40834800	Weak transcription	Right Ventricle	heart
15	chr21:40828800-40835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:40828800-40847600	Weak transcription	Brain Angular Gyrus	brain
17	chr21:40828800-40847600	Weak transcription	Brain Anterior Caudate	brain
18	chr21:40829800-40834800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
20	chr21:40830000-40830200	Enhancers	Primary T cells from cord blood	blood
21	chr21:40830000-40835600	Weak transcription	Fetal Heart	heart

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