Variant report

Variant	rs57943785
Chromosome Location	chr21:40790280-40790281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40758997..40761375-chr21:40788226..40790999,2	MCF-7	breast:
2	chr21:40789982..40791486-chr21:40796275..40798848,2	K562	blood:
3	chr21:40715848..40717362-chr21:40790203..40791942,2	K562	blood:
4	chr21:40784167..40788125-chr21:40789270..40793629,5	K562	blood:

Variant related genes	Relation type
ENSG00000252915	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56653651	0.81[AFR][1000 genomes]
rs61154033	1.00[AFR][1000 genomes]
rs7278819	1.00[AFR][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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
3	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
4	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40780600-40801800	Weak transcription	Lung	lung
12	chr21:40780800-40791800	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
14	chr21:40781200-40798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
16	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
18	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:40785000-40800600	Weak transcription	Gastric	stomach
20	chr21:40786200-40792000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:40786400-40792400	Weak transcription	Thymus	Thymus
22	chr21:40786600-40798000	Weak transcription	Ovary	ovary
23	chr21:40788600-40790800	Weak transcription	K562	blood

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