Variant report

Variant	rs1543656
Chromosome Location	chr21:40101965-40101966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40098363..40101350-chr21:40101675..40103757,2	K562	blood:
2	chr21:40094693..40096711-chr21:40100596..40102173,2	K562	blood:
3	chr21:40100599..40102833-chr21:40186029..40188025,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2017076	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410050	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836644	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2836645	1.00[ASN][1000 genomes]
rs2836648	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836649	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61585212	1.00[ASN][1000 genomes]
rs735249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40095000-40106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40098000-40105800	Weak transcription	Dnd41	blood
3	chr21:40098200-40102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:40101000-40102600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:40101400-40102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:40101400-40102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40101600-40102000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:40101600-40102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr21:40101600-40102200	Flanking Active TSS	HSMMtube	muscle
10	chr21:40101600-40102600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40101600-40102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:40101600-40102600	Enhancers	HMEC	breast
13	chr21:40101600-40103000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:40101800-40102000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr21:40101800-40102200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr21:40101800-40102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:40101800-40102200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr21:40101800-40102200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:40101800-40102200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:40101800-40102200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40101800-40102200	Enhancers	Esophagus	oesophagus
22	chr21:40101800-40102200	Flanking Active TSS	HSMM	muscle
23	chr21:40101800-40102200	Enhancers	NHDF-Ad	bronchial
24	chr21:40101800-40102200	Enhancers	NHEK	skin
25	chr21:40101800-40102400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr21:40101800-40102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:40101800-40102400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:40101800-40102400	Enhancers	HepG2	liver
29	chr21:40101800-40102400	Enhancers	Osteobl	bone
30	chr21:40101800-40102600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:40101800-40102600	Enhancers	Aorta	Aorta
32	chr21:40101800-40102600	Enhancers	NHLF	lung

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