Variant report

Variant	rs10020534
Chromosome Location	chr4:54193673-54193674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10012328	0.80[AFR][1000 genomes]
rs13122159	0.84[AMR][1000 genomes]
rs13140358	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17705995	0.80[AFR][1000 genomes]
rs2035375	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35298217	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9968448	0.80[AFR][1000 genomes]
rs9990547	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998819	0.84[AMR][1000 genomes]
rs9999144	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:54180000-54212800	Weak transcription	Primary B cells from cord blood	blood
6	chr4:54187800-54212800	Weak transcription	Dnd41	blood
7	chr4:54188200-54195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:54188200-54213800	Weak transcription	Right Ventricle	heart
9	chr4:54188200-54218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:54188400-54196000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:54188400-54205600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:54188400-54212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:54188600-54196800	Weak transcription	Small Intestine	intestine
15	chr4:54188600-54202800	Weak transcription	Primary T cells from cord blood	blood
16	chr4:54188600-54215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:54189200-54193800	Weak transcription	NHLF	lung
18	chr4:54189600-54212800	Weak transcription	Osteobl	bone
19	chr4:54189800-54206400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:54190000-54213800	Weak transcription	HUVEC	blood vessel
21	chr4:54192200-54212600	Weak transcription	NHDF-Ad	bronchial
22	chr4:54192200-54212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:54193200-54193800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:54193200-54193800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:54193200-54193800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr4:54193400-54193800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:54193600-54193800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:54193600-54193800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr4:54193600-54193800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:54193600-54193800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:54193600-54193800	Enhancers	Lung	lung
32	chr4:54193600-54195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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