Variant report

Variant	rs73903623
Chromosome Location	chr21:40225291-40225292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40224619..40227702-chr21:40232966..40234903,3	MCF-7	breast:
2	chr21:40218988..40223370-chr21:40223471..40227627,7	K562	blood:
3	chr21:40177638..40179463-chr21:40225287..40227141,2	MCF-7	breast:
4	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
5	chr21:40175995..40178465-chr21:40223341..40225406,3	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56267686	1.00[AFR][1000 genomes]
rs73903619	1.00[AFR][1000 genomes]
rs73903641	1.00[AFR][1000 genomes]
rs73903642	1.00[AFR][1000 genomes]
rs73903645	1.00[AFR][1000 genomes]
rs73903672	1.00[AFR][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40219800-40229000	Weak transcription	Right Atrium	heart
3	chr21:40220400-40229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:40221200-40226400	Enhancers	HUVEC	blood vessel
5	chr21:40221200-40229000	Weak transcription	Left Ventricle	heart
6	chr21:40222400-40225600	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:40222400-40228200	Weak transcription	Fetal Heart	heart
8	chr21:40222800-40226200	Enhancers	K562	blood
9	chr21:40223200-40226400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:40223200-40226600	Enhancers	Hela-S3	cervix
11	chr21:40223400-40226400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr21:40223400-40226400	Enhancers	NHEK	skin
13	chr21:40223600-40226000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:40223600-40226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40223800-40225400	Weak transcription	Dnd41	blood
16	chr21:40224000-40226200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:40224400-40225800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:40224400-40226000	Enhancers	NHLF	lung
19	chr21:40224400-40226200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr21:40224400-40226400	Enhancers	HMEC	breast
21	chr21:40224600-40225600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:40224600-40225800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:40224600-40225800	Enhancers	HepG2	liver
24	chr21:40224800-40225600	Weak transcription	Esophagus	oesophagus
25	chr21:40224800-40226200	Enhancers	A549	lung
26	chr21:40225000-40226200	Enhancers	NH-A	brain
27	chr21:40225200-40225400	Enhancers	Psoas Muscle	Psoas
28	chr21:40225200-40225600	Enhancers	Fetal Muscle Trunk	muscle
29	chr21:40225200-40225600	Active TSS	Spleen	Spleen
30	chr21:40225200-40226000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:40225200-40226000	Enhancers	NHDF-Ad	bronchial
32	chr21:40225200-40226200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:40225200-40226200	Enhancers	Osteobl	bone
34	chr21:40225200-40226400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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