Variant report

Variant	rs915763
Chromosome Location	chr21:17978588-17978589
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	chr21:17961458..17963589-chr21:17976639..17978962,2	MCF-7	breast:
2	chr21:17976261..17979732-chr21:17980310..17982604,3	K562	blood:

Variant related genes	Relation type
ENSG00000207863	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2018708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823897	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2823898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2823899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2823900	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2823901	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs2823903	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823904	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823905	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823906	1.00[CEU][hapmap]
rs2823907	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823908	0.85[EUR][1000 genomes]
rs28547508	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915764	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9284478	0.85[EUR][1000 genomes]
rs9305771	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305772	0.85[EUR][1000 genomes]
rs9976775	0.92[EUR][1000 genomes]
rs9976817	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978710	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980971	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-17979200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr21:17961200-17985200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
4	chr21:17961400-17983200	Weak transcription	HSMMtube	muscle
5	chr21:17961400-17984000	Weak transcription	Osteobl	bone
6	chr21:17962200-17987800	Weak transcription	Hela-S3	cervix
7	chr21:17963600-17981400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17969000-18005200	Weak transcription	Liver	Liver
9	chr21:17969200-17980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:17969400-17979800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
12	chr21:17975800-17979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:17976000-17979200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:17977200-17979000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17977800-17989800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:17977800-17993600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:17978000-17978800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:17978000-17978800	Enhancers	Ovary	ovary
20	chr21:17978200-17978800	Enhancers	Brain Angular Gyrus	brain
21	chr21:17978200-17978800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr21:17978200-17979000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:17978200-17985800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr21:17978200-17988600	Weak transcription	Fetal Stomach	stomach
25	chr21:17978400-17978800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:17978400-17979000	Enhancers	Brain Anterior Caudate	brain
27	chr21:17978400-17979000	Enhancers	Brain Cingulate Gyrus	brain
28	chr21:17978400-17979200	Enhancers	Brain Germinal Matrix	brain
29	chr21:17978400-17979400	Enhancers	Brain Hippocampus Middle	brain
30	chr21:17978400-17979400	Enhancers	Brain Substantia Nigra	brain
31	chr21:17978400-17979600	Weak transcription	Adipose Nuclei	Adipose
32	chr21:17978400-17979600	Enhancers	Fetal Brain Female	brain
33	chr21:17978400-17979600	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:17978400-17979800	Enhancers	Fetal Brain Male	brain
35	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart

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