Variant report

Variant	rs8127343
Chromosome Location	chr21:17567888-17567889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1492961	1.00[AMR][1000 genomes]
rs16994415	0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994421	1.00[ASW][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994425	0.84[ASW][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994427	1.00[ASW][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994429	0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994433	0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994440	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16994610	1.00[AMR][1000 genomes]
rs16994646	1.00[AMR][1000 genomes]
rs239081	1.00[AMR][1000 genomes]
rs41417245	1.00[AMR][1000 genomes]
rs8127337	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129316	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17559000-17571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17565400-17570000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr21:17566000-17568000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr21:17566200-17568400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:17566200-17569200	Active TSS	Fetal Muscle Trunk	muscle
6	chr21:17566200-17569400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:17566200-17569400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:17566200-17569400	Active TSS	Brain Hippocampus Middle	brain
9	chr21:17566200-17569600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17566200-17569600	Active TSS	Ovary	ovary
11	chr21:17566200-17569600	Active TSS	Psoas Muscle	Psoas
12	chr21:17566200-17569600	Active TSS	GM12878-XiMat	blood
13	chr21:17566200-17569800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:17566200-17569800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:17566200-17569800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:17566200-17569800	Active TSS	Brain Germinal Matrix	brain
17	chr21:17566200-17570000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:17566200-17570000	Active TSS	Right Atrium	heart
19	chr21:17566400-17568000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:17566400-17568000	Active TSS	Fetal Intestine Large	intestine
21	chr21:17566400-17568000	Flanking Active TSS	Fetal Lung	lung
22	chr21:17566400-17568200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr21:17566400-17568600	Active TSS	Fetal Thymus	thymus
24	chr21:17566400-17568800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr21:17566400-17569000	Active TSS	Fetal Intestine Small	intestine
26	chr21:17566400-17569200	Active TSS	Liver	Liver
27	chr21:17566400-17569400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:17566400-17569400	Active TSS	Brain Cingulate Gyrus	brain
29	chr21:17566400-17569400	Active TSS	A549	lung
30	chr21:17566400-17569600	Active TSS	Aorta	Aorta
31	chr21:17566400-17569600	Active TSS	Fetal Stomach	stomach
32	chr21:17566400-17569600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr21:17566400-17569600	Active TSS	Hela-S3	cervix
34	chr21:17566400-17569600	Active TSS	HSMMtube	muscle
35	chr21:17566400-17569800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr21:17566400-17569800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:17566400-17569800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:17566400-17569800	Active TSS	Colon Smooth Muscle	Colon
39	chr21:17566400-17569800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr21:17566400-17569800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr21:17566400-17569800	Active TSS	Stomach Smooth Muscle	stomach
42	chr21:17566400-17569800	Active TSS	NHDF-Ad	bronchial
43	chr21:17566400-17569800	Active TSS	NHLF	lung
44	chr21:17566400-17570000	Active TSS	Brain Substantia Nigra	brain
45	chr21:17566600-17568400	Active TSS	HSMM	muscle
46	chr21:17566600-17568400	Active TSS	Osteobl	bone
47	chr21:17566600-17568600	Active TSS	Right Ventricle	heart
48	chr21:17566600-17569400	Active TSS	Adipose Nuclei	Adipose
49	chr21:17566600-17569600	Active TSS	Brain Angular Gyrus	brain
50	chr21:17566600-17569600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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