Variant report

Variant	rs735249
Chromosome Location	chr21:40102976-40102977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40098363..40101350-chr21:40101675..40103757,2	K562	blood:
2	chr21:40102465..40104308-chr21:40190130..40191918,2	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]
rs1543656	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410050	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836644	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2836645	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2836648	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61585212	0.82[AMR][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:33 , 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	chr21:40101600-40103000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:40102000-40106000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:40102000-40106000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:40102200-40106000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:40102200-40106000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr21:40102200-40106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:40102200-40106000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:40102200-40106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:40102200-40106000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:40102200-40106000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:40102200-40106000	Weak transcription	Esophagus	oesophagus
14	chr21:40102200-40106000	Weak transcription	NHDF-Ad	bronchial
15	chr21:40102200-40106000	Weak transcription	NHEK	skin
16	chr21:40102400-40105800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40102400-40106000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:40102400-40106000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:40102400-40106000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:40102400-40106000	Weak transcription	HepG2	liver
21	chr21:40102400-40106000	Weak transcription	HSMMtube	muscle
22	chr21:40102600-40105600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:40102600-40105800	Weak transcription	Fetal Thymus	thymus
24	chr21:40102600-40106000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:40102600-40106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:40102600-40106000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:40102600-40106000	Weak transcription	Aorta	Aorta
28	chr21:40102600-40106000	Weak transcription	Liver	Liver
29	chr21:40102600-40106000	Weak transcription	HSMM	muscle
30	chr21:40102600-40106000	Weak transcription	NHLF	lung
31	chr21:40102600-40106200	Weak transcription	HMEC	breast
32	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:40102800-40105800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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