Variant report

Variant	rs8134181
Chromosome Location	chr21:45339402-45339403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45313419..45315181-chr21:45337609..45339759,2	K562	blood:
2	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
3	chr21:45228155..45231014-chr21:45339166..45342042,3	K562	blood:
4	chr21:45334570..45338840-chr21:45339112..45343099,4	MCF-7	breast:
5	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2070545	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2248918	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs2838442	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2838443	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs3788076	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3788083	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs73371146	0.83[ASN][1000 genomes]
rs73371158	0.97[ASN][1000 genomes]
rs73371168	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45332800-45340000	Weak transcription	Fetal Kidney	kidney
2	chr21:45333000-45341000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:45333000-45341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:45333600-45340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:45334200-45341000	Weak transcription	Placenta	Placenta
6	chr21:45334200-45341200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:45334800-45340000	Weak transcription	Psoas Muscle	Psoas
8	chr21:45336000-45344400	Enhancers	Liver	Liver
9	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
10	chr21:45336800-45339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr21:45336800-45341200	Weak transcription	Fetal Lung	lung
12	chr21:45337000-45340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:45337000-45340000	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:45337000-45342000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:45337200-45340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:45337200-45340000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:45337200-45340000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:45337200-45341000	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45337200-45341200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:45337200-45342400	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:45337200-45350800	Weak transcription	Fetal Brain Male	brain
22	chr21:45337400-45339600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr21:45337400-45339600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45337400-45339800	Weak transcription	Fetal Stomach	stomach
25	chr21:45337400-45340000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:45337400-45340000	Weak transcription	Colonic Mucosa	Colon
27	chr21:45337400-45341200	Weak transcription	Brain Anterior Caudate	brain
28	chr21:45337400-45342200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:45337400-45342200	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:45337400-45342200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr21:45337400-45343200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:45337400-45344400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr21:45337600-45339600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:45337600-45339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:45337600-45339800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr21:45337600-45340000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:45337600-45340000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr21:45337600-45340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:45337600-45341200	Weak transcription	Ovary	ovary
40	chr21:45337600-45341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:45337600-45341600	Weak transcription	Fetal Heart	heart
42	chr21:45337600-45341600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr21:45337600-45342000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr21:45337600-45342200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr21:45337600-45342600	Weak transcription	Brain Substantia Nigra	brain
46	chr21:45337600-45343200	Weak transcription	NHEK	skin
47	chr21:45337600-45344200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr21:45337600-45344400	Weak transcription	Dnd41	blood
49	chr21:45337600-45358600	Weak transcription	Osteobl	bone
50	chr21:45337800-45341200	Weak transcription	Pancreas	Pancrea

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