Variant report

Variant	rs423398
Chromosome Location	chr21:46513695-46513696
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	chr21:46326231..46328580-chr21:46511672..46514505,2	MCF-7	breast:
2	chr21:46511460..46514377-chr21:46529611..46531181,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17004749	1.00[YRI][hapmap]
rs17004752	1.00[YRI][hapmap]
rs366235	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs377244	1.00[YRI][hapmap]
rs378714	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs381655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs407550	1.00[YRI][hapmap]
rs407614	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs413148	0.88[EUR][1000 genomes]
rs420085	1.00[AMR][1000 genomes]
rs441788	0.88[EUR][1000 genomes]
rs447302	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs449191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs453176	1.00[YRI][hapmap]

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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
3	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:46502000-46515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:46502000-46516000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:46503000-46522200	Weak transcription	Brain Angular Gyrus	brain
7	chr21:46503200-46516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:46503200-46516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:46506600-46521400	Weak transcription	NHEK	skin
10	chr21:46507600-46515200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:46509400-46524000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr21:46509800-46513800	Enhancers	Fetal Brain Female	brain
13	chr21:46510200-46514800	Enhancers	Fetal Brain Male	brain
14	chr21:46510200-46515600	Weak transcription	K562	blood
15	chr21:46510400-46515200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:46510600-46519200	Enhancers	Primary B cells from peripheral blood	blood
17	chr21:46511200-46515200	Enhancers	Primary B cells from cord blood	blood
18	chr21:46511400-46515000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:46511600-46514000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:46511600-46514800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:46511800-46515400	Weak transcription	Hela-S3	cervix
22	chr21:46511800-46515600	Weak transcription	HMEC	breast
23	chr21:46511800-46520200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:46512000-46521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:46512200-46514400	Weak transcription	Ovary	ovary
26	chr21:46512200-46515200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:46512200-46515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:46512200-46515800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:46512200-46518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:46512200-46521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:46512200-46522400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr21:46512600-46515200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:46512800-46513800	Enhancers	Lung	lung
35	chr21:46512800-46513800	Enhancers	Small Intestine	intestine
36	chr21:46512800-46513800	Enhancers	Stomach Mucosa	stomach
37	chr21:46512800-46513800	Enhancers	Spleen	Spleen
38	chr21:46512800-46513800	Flanking Active TSS	HUVEC	blood vessel
39	chr21:46512800-46514600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:46512800-46515000	Enhancers	Fetal Muscle Trunk	muscle
41	chr21:46512800-46516200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr21:46512800-46520400	Enhancers	Fetal Muscle Leg	muscle
43	chr21:46513000-46513800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr21:46513000-46513800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr21:46513000-46514000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:46513000-46514600	Enhancers	Fetal Thymus	thymus
47	chr21:46513000-46514800	Enhancers	Primary T cells from cord blood	blood
48	chr21:46513000-46515000	Enhancers	Primary hematopoietic stem cells	blood
49	chr21:46513000-46515000	Enhancers	Colon Smooth Muscle	Colon
50	chr21:46513000-46515600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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