Variant report

Variant	rs375073
Chromosome Location	chr21:40487998-40487999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
2	chr21:40480319..40483097-chr21:40487350..40489663,2	K562	blood:
3	chr21:40175810..40178075-chr21:40487387..40489316,2	MCF-7	breast:
4	chr21:40480319..40482788-chr21:40486845..40488850,2	K562	blood:
5	chr21:40480995..40484748-chr21:40484754..40488551,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1013129	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1810383	0.83[ASN][1000 genomes]
rs1810384	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1882777	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2142112	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836895	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs373728	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs431284	0.83[ASN][1000 genomes]
rs431376	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs431704	0.83[ASN][1000 genomes]
rs442916	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs454902	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283826	0.83[ASN][1000 genomes]
rs8128678	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs909181	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs941385	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9974464	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40483200-40488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:40486000-40488000	Enhancers	NH-A	brain
4	chr21:40486400-40488000	Enhancers	HepG2	liver
5	chr21:40486600-40488000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:40486600-40488000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
8	chr21:40487000-40488000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40487000-40488000	Enhancers	Esophagus	oesophagus
10	chr21:40487000-40488000	Enhancers	Fetal Stomach	stomach
11	chr21:40487000-40488200	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:40487000-40488200	Enhancers	Lung	lung
13	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
14	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
15	chr21:40487400-40488000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:40487400-40488800	Weak transcription	Placenta	Placenta
17	chr21:40487600-40488400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:40487600-40490600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40487600-40492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:40487600-40493000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:40487800-40488000	Enhancers	Stomach Smooth Muscle	stomach
22	chr21:40487800-40488400	Enhancers	NHDF-Ad	bronchial
23	chr21:40487800-40491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:40487800-40492800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:40487800-40493000	Weak transcription	Psoas Muscle	Psoas
26	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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