Variant report

Variant	rs73376275
Chromosome Location	chr21:44631292-44631293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44603565..44606526-chr21:44629960..44632755,2	MCF-7	breast:
2	chr21:44629762..44632427-chr21:44730847..44732356,2	MCF-7	breast:
3	chr12:57392993..57395915-chr21:44631132..44633606,2	MCF-7	breast:
4	chr21:44630304..44632174-chr21:44749199..44751803,2	MCF-7	breast:
5	chr21:44631195..44632052-chr8:26149031..26149619,2	Hela-S3	cervix:
6	chr21:44629026..44630717-chr21:44630904..44632425,2	K562	blood:

Variant related genes	Relation type
ENSG00000221914	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11203178	1.00[EUR][1000 genomes]
rs11908865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28560107	1.00[EUR][1000 genomes]
rs7276521	1.00[EUR][1000 genomes]
rs8128881	1.00[EUR][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	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
5	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44621600-44632200	Weak transcription	Right Atrium	heart
2	chr21:44629000-44631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:44629600-44631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44629600-44632200	Enhancers	Gastric	stomach
5	chr21:44629600-44632400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:44630000-44632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:44630000-44632400	Flanking Active TSS	Hela-S3	cervix
8	chr21:44630200-44632200	Enhancers	Pancreas	Pancrea
9	chr21:44630600-44632200	Enhancers	Right Ventricle	heart
10	chr21:44630800-44631400	Enhancers	A549	lung
11	chr21:44630800-44631800	Enhancers	Esophagus	oesophagus
12	chr21:44630800-44632000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:44630800-44632200	Enhancers	Fetal Lung	lung
14	chr21:44630800-44632200	Bivalent Enhancer	Placenta	Placenta
15	chr21:44630800-44632400	Enhancers	Spleen	Spleen
16	chr21:44630800-44632400	Flanking Active TSS	HepG2	liver
17	chr21:44631000-44631400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr21:44631000-44632000	Enhancers	Liver	Liver
19	chr21:44631000-44632000	Enhancers	Fetal Intestine Small	intestine
20	chr21:44631000-44632000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr21:44631000-44632200	Enhancers	Colonic Mucosa	Colon
22	chr21:44631000-44632200	Enhancers	Duodenum Mucosa	Duodenum
23	chr21:44631000-44632200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr21:44631000-44632200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr21:44631000-44632400	Enhancers	Brain Germinal Matrix	brain
26	chr21:44631200-44631400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:44631200-44631400	Enhancers	Brain Cingulate Gyrus	brain
28	chr21:44631200-44631400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr21:44631200-44631600	Enhancers	Fetal Intestine Large	intestine
30	chr21:44631200-44632000	Enhancers	Left Ventricle	heart
31	chr21:44631200-44632400	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:44631200-44632400	Enhancers	Stomach Mucosa	stomach
33	chr21:44631200-44632600	Enhancers	Lung	lung

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