Variant report

Variant	rs17000181
Chromosome Location	chr21:17958606-17958607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:17958474-17958850	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr21:17958321-17961589	SK-N-SH	brain:	n/a	n/a
3	MYC	chr21:17958602-17958783	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00478	TF binding region
ENSG00000269950	TF binding region
MIR125B2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes]
rs11910489	1.00[EUR][1000 genomes]
rs11911281	1.00[EUR][1000 genomes]
rs16998528	1.00[EUR][1000 genomes]
rs16998825	1.00[EUR][1000 genomes]
rs16999201	1.00[EUR][1000 genomes]
rs16999221	1.00[EUR][1000 genomes]
rs16999403	1.00[EUR][1000 genomes]
rs16999411	1.00[EUR][1000 genomes]
rs16999453	1.00[EUR][1000 genomes]
rs16999968	1.00[AMR][1000 genomes]
rs17000077	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2000628	1.00[AMR][1000 genomes]
rs2243706	1.00[EUR][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57784792	1.00[EUR][1000 genomes]
rs58347042	1.00[EUR][1000 genomes]
rs59937974	1.00[EUR][1000 genomes]
rs6517701	1.00[EUR][1000 genomes]
rs6517702	1.00[EUR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277099	1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73367454	1.00[EUR][1000 genomes]
rs73367494	1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73893739	1.00[EUR][1000 genomes]
rs8127203	1.00[AMR][1000 genomes]
rs8127360	1.00[EUR][1000 genomes]
rs8128705	1.00[EUR][1000 genomes]
rs8128729	1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][1000 genomes]
rs8130130	1.00[EUR][1000 genomes]
rs8131413	1.00[EUR][1000 genomes]
rs8131420	1.00[EUR][1000 genomes]
rs8132247	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17950400-17959000	Weak transcription	Fetal Brain Male	brain
4	chr21:17952000-17959200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:17952200-17958800	Weak transcription	HSMMtube	muscle
6	chr21:17952200-17959000	Weak transcription	NHDF-Ad	bronchial
7	chr21:17952200-17959200	Weak transcription	Aorta	Aorta
8	chr21:17952200-17959400	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:17952200-17959400	Weak transcription	Left Ventricle	heart
10	chr21:17952200-17959400	Weak transcription	Ovary	ovary
11	chr21:17952200-17959400	Weak transcription	NH-A	brain
12	chr21:17953400-17959200	Weak transcription	Brain Angular Gyrus	brain
13	chr21:17953400-17959400	Weak transcription	HSMM	muscle
14	chr21:17953600-17958800	Weak transcription	Colon Smooth Muscle	Colon
15	chr21:17953600-17959200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:17953600-17959400	Weak transcription	Adipose Nuclei	Adipose
17	chr21:17955800-17959400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:17956200-17959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:17957000-17959400	Weak transcription	Pancreas	Pancrea
20	chr21:17957200-17959000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:17957800-17958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:17958200-17959000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17958400-17958800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr21:17958400-17959000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:17958400-17959000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr21:17958400-17959200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:17958400-17959200	Enhancers	Liver	Liver
28	chr21:17958400-17959200	Enhancers	Brain Germinal Matrix	brain
29	chr21:17958400-17959200	Enhancers	Fetal Lung	lung
30	chr21:17958400-17959200	Enhancers	HUVEC	blood vessel
31	chr21:17958400-17959400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:17958400-17959400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:17958400-17960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:17958400-17960200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr21:17958600-17958800	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:17958600-17958800	Enhancers	A549	lung
37	chr21:17958600-17958800	Enhancers	HMEC	breast
38	chr21:17958600-17959000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:17958600-17959000	Enhancers	Brain Substantia Nigra	brain
40	chr21:17958600-17959000	Enhancers	Fetal Brain Female	brain
41	chr21:17958600-17959000	Enhancers	Right Atrium	heart
42	chr21:17958600-17959000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:17958600-17959000	Enhancers	Osteobl	bone
44	chr21:17958600-17959200	Enhancers	Brain Anterior Caudate	brain
45	chr21:17958600-17959200	Enhancers	Brain Hippocampus Middle	brain
46	chr21:17958600-17960000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:17958600-17960000	Flanking Active TSS	Hela-S3	cervix
48	chr21:17958600-17960400	Enhancers	Fetal Heart	heart

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