Variant report

Variant	rs7277870
Chromosome Location	chr21:40537632-40537633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40530353..40532192-chr21:40535723..40538696,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11909263	0.83[AFR][1000 genomes]
rs11909443	1.00[YRI][hapmap]
rs11909837	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11910576	1.00[YRI][hapmap]
rs11911245	0.92[AFR][1000 genomes]
rs11911709	1.00[YRI][hapmap]
rs11911944	0.83[AFR][1000 genomes]
rs2836976	1.00[YRI][hapmap]
rs7275380	1.00[YRI][hapmap]
rs7276914	1.00[YRI][hapmap]
rs7279424	0.91[AFR][1000 genomes]
rs7279749	0.96[AFR][1000 genomes]
rs8130185	0.96[AFR][1000 genomes]
rs8132308	0.83[AFR][1000 genomes]
rs9305669	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	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
2	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40533600-40545400	Weak transcription	HUVEC	blood vessel
2	chr21:40536400-40541200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:40536800-40541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:40537200-40541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:40537200-40541200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:40537200-40541200	Weak transcription	HSMMtube	muscle
7	chr21:40537200-40542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:40537200-40543000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:40537200-40543000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:40537200-40543000	Weak transcription	Lung	lung
11	chr21:40537200-40543000	Weak transcription	Pancreas	Pancrea
12	chr21:40537400-40541200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:40537400-40541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:40537400-40541200	Weak transcription	Left Ventricle	heart
15	chr21:40537400-40542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40537400-40543000	Weak transcription	Aorta	Aorta
17	chr21:40537400-40543000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr21:40537400-40543200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:40537600-40541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:40537600-40541200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:40537600-40541200	Weak transcription	NHEK	skin
22	chr21:40537600-40553800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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