Variant report

Variant	rs2823298
Chromosome Location	chr21:16855571-16855572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16580777..16584780-chr21:16852967..16856651,5	MCF-7	breast:
2	chr21:16850917..16853186-chr21:16853447..16855595,2	MCF-7	breast:
3	chr21:16582289..16583203-chr21:16854473..16855689,3	MCF-7	breast:
4	chr21:16435342..16439533-chr21:16847415..16856930,13	MCF-7	breast:
5	chr21:16236518..16237478-chr21:16855231..16856151,4	MCF-7	breast:
6	chr21:16434137..16441229-chr21:16850537..16857302,14	MCF-7	breast:
7	chr21:16614093..16615068-chr21:16855320..16856108,3	MCF-7	breast:
8	chr21:16668614..16670305-chr21:16854249..16855799,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2823291	0.82[EUR][1000 genomes]
rs2823292	0.82[EUR][1000 genomes]
rs2823293	0.88[EUR][1000 genomes]
rs2823295	0.84[CHB][hapmap];0.88[GIH][hapmap]
rs2823299	0.85[EUR][1000 genomes]
rs2823300	0.84[EUR][1000 genomes]
rs2823301	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823302	0.83[EUR][1000 genomes]
rs2823303	0.83[EUR][1000 genomes]
rs2823304	1.00[CEU][hapmap];0.92[CHB][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823305	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2823307	1.00[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2823308	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8133958	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9977554	0.83[EUR][1000 genomes]
rs9978349	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9978541	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16850400-16856200	Enhancers	Dnd41	blood
2	chr21:16850800-16858800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16851200-16856400	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:16851800-16855600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr21:16854200-16855600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:16854200-16856000	Enhancers	A549	lung
7	chr21:16854600-16855600	Enhancers	HepG2	liver
8	chr21:16855000-16855600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr21:16855000-16855600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:16855000-16855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16855000-16856000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:16855200-16855600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:16855200-16855600	Enhancers	Liver	Liver
14	chr21:16855200-16855600	Enhancers	Rectal Smooth Muscle	rectum
15	chr21:16855200-16856000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr21:16855200-16856400	Enhancers	HMEC	breast
17	chr21:16855400-16855600	Enhancers	HSMM	muscle
18	chr21:16855400-16855800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr21:16855400-16855800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:16855400-16855800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:16855400-16855800	Active TSS	Fetal Kidney	kidney
22	chr21:16855400-16855800	Enhancers	Fetal Thymus	thymus
23	chr21:16855400-16856000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr21:16855400-16856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr21:16855400-16856000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr21:16855400-16856000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:16855400-16856000	Enhancers	Brain Anterior Caudate	brain
28	chr21:16855400-16856000	Enhancers	NHEK	skin

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