Variant report

Variant	rs73367937
Chromosome Location	chr21:40799649-40799650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40795284..40797776-chr21:40798608..40802511,3	K562	blood:
2	chr21:40798389..40799917-chr21:40801424..40804136,2	K562	blood:
3	chr21:40798110..40799717-chr21:40814722..40817598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16997735	1.00[EUR][1000 genomes]
rs16997736	1.00[EUR][1000 genomes]
rs17406223	1.00[EUR][1000 genomes]
rs61100936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73354299	1.00[EUR][1000 genomes]
rs73354302	1.00[EUR][1000 genomes]
rs73356009	1.00[EUR][1000 genomes]
rs73356012	1.00[EUR][1000 genomes]
rs73356014	1.00[EUR][1000 genomes]
rs73356017	1.00[EUR][1000 genomes]
rs73364045	1.00[EUR][1000 genomes]
rs73365919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367966	1.00[EUR][1000 genomes]
rs73367969	1.00[EUR][1000 genomes]
rs73367979	1.00[EUR][1000 genomes]
rs73367982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367997	1.00[EUR][1000 genomes]
rs73370019	1.00[EUR][1000 genomes]
rs73370028	1.00[EUR][1000 genomes]
rs73370036	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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
3	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
4	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:40780600-40801800	Weak transcription	Lung	lung
7	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
8	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
10	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:40785000-40800600	Weak transcription	Gastric	stomach
12	chr21:40794600-40802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:40794800-40800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:40794800-40801400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:40795000-40802000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr21:40795000-40802000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:40795200-40801400	Weak transcription	Right Atrium	heart
18	chr21:40797200-40800200	Weak transcription	K562	blood
19	chr21:40798600-40800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:40798800-40801200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:40799600-40801000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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