Variant report

Variant	rs449191
Chromosome Location	chr21:46524983-46524984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46221400..46223268-chr21:46524948..46526484,2	MCF-7	breast:
2	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
3	chr21:46523822..46526157-chr21:46543907..46545528,2	MCF-7	breast:
4	chr21:46493396..46496965-chr21:46524044..46525744,3	MCF-7	breast:
5	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs366235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs378714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs381655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs407614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs413148	0.88[EUR][1000 genomes]
rs420085	1.00[AMR][1000 genomes]
rs423398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs441788	0.88[EUR][1000 genomes]
rs447302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46514200-46525000	Enhancers	Right Ventricle	heart
4	chr21:46516400-46525600	Weak transcription	K562	blood
5	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:46519400-46526800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:46520400-46525400	Weak transcription	Fetal Brain Female	brain
8	chr21:46520600-46525200	Enhancers	Left Ventricle	heart
9	chr21:46521200-46527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46521400-46525000	Enhancers	NHEK	skin
12	chr21:46521400-46525200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:46521400-46526400	Enhancers	Adipose Nuclei	Adipose
14	chr21:46521600-46525000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:46521600-46525200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:46521600-46525200	Enhancers	HMEC	breast
17	chr21:46521600-46526400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:46521600-46526800	Genic enhancers	HSMM	muscle
19	chr21:46521800-46526600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr21:46521800-46526800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr21:46522000-46525000	Enhancers	Fetal Muscle Leg	muscle
22	chr21:46522000-46525200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr21:46522000-46525200	Enhancers	Right Atrium	heart
24	chr21:46522000-46526400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr21:46522000-46527000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr21:46522200-46525000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:46522200-46527200	Enhancers	Colon Smooth Muscle	Colon
28	chr21:46522400-46525000	Enhancers	Brain Hippocampus Middle	brain
29	chr21:46522400-46525000	Enhancers	HUVEC	blood vessel
30	chr21:46522400-46525600	Weak transcription	Osteobl	bone
31	chr21:46522600-46525000	Enhancers	Aorta	Aorta
32	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr21:46522800-46529600	Weak transcription	NH-A	brain
34	chr21:46523000-46525200	Weak transcription	Fetal Brain Male	brain
35	chr21:46523000-46525600	Weak transcription	Brain Angular Gyrus	brain
36	chr21:46523000-46525600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:46523000-46526200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
39	chr21:46523000-46529400	Weak transcription	NHLF	lung
40	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:46523200-46525600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:46523400-46525800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr21:46523400-46526800	Enhancers	Fetal Heart	heart
46	chr21:46523400-46527000	Enhancers	Primary T cells from cord blood	blood
47	chr21:46523600-46526200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr21:46523600-46526800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr21:46523800-46525000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:46523800-46525000	Enhancers	Duodenum Smooth Muscle	Duodenum

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