Variant report

Variant	rs12053740
Chromosome Location	chr21:39835126-39835127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39832529..39834074-chr21:39834423..39835958,2	MCF-7	breast:
2	chr21:39831468..39833769-chr21:39834238..39836562,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1015022	1.00[YRI][hapmap]
rs2836443	1.00[YRI][hapmap]
rs2836445	1.00[YRI][hapmap]
rs3787901	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58030288	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7275212	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9636638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9636935	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9636936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]

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	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39812800-39844600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39821200-39836400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:39831200-39837800	Weak transcription	Aorta	Aorta
5	chr21:39832200-39839200	Weak transcription	Fetal Thymus	thymus
6	chr21:39832800-39835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:39832800-39836400	Weak transcription	Fetal Stomach	stomach
8	chr21:39833000-39836000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:39833200-39842800	Weak transcription	Esophagus	oesophagus
10	chr21:39833400-39838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:39833600-39835200	Weak transcription	Left Ventricle	heart
12	chr21:39833600-39835200	Enhancers	HUVEC	blood vessel
13	chr21:39833600-39835800	Weak transcription	Right Atrium	heart
14	chr21:39834400-39836400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:39834600-39835600	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr21:39834600-39836000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:39834600-39836000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr21:39834800-39835200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr21:39834800-39835800	Enhancers	Lung	lung
20	chr21:39835000-39835400	Weak transcription	Spleen	Spleen
21	chr21:39835000-39836200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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