Variant report

Variant	rs4455864
Chromosome Location	chr8:49185966-49185967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10099462	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1022140	0.88[ASN][1000 genomes]
rs10429272	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808911	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778279	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11783647	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783734	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12675189	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4455863	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4489344	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4531079	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537328	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4596682	0.88[AMR][1000 genomes]
rs4639551	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873271	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841194	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
3	chr8:49175000-49186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:49182200-49186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49182400-49186000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:49182400-49186200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:49182400-49186200	Weak transcription	Osteobl	bone
8	chr8:49182400-49186400	Weak transcription	Esophagus	oesophagus
9	chr8:49182600-49186600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:49183000-49186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:49183000-49186200	Weak transcription	NHLF	lung
12	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:49183200-49186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:49183400-49186400	Weak transcription	Fetal Kidney	kidney
15	chr8:49183400-49186400	Weak transcription	HSMM	muscle
16	chr8:49183800-49186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:49183800-49186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:49183800-49186400	Weak transcription	Stomach Mucosa	stomach
19	chr8:49184400-49186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:49184400-49186200	Weak transcription	Fetal Lung	lung
21	chr8:49184400-49186200	Weak transcription	NHDF-Ad	bronchial
22	chr8:49184400-49186400	Weak transcription	Adipose Nuclei	Adipose
23	chr8:49184400-49186600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:49184600-49186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:49184600-49186000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:49184600-49186200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:49185000-49186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:49185200-49186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:49185200-49186200	Weak transcription	Fetal Stomach	stomach
30	chr8:49185200-49186400	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:49185200-49186400	Weak transcription	Small Intestine	intestine
32	chr8:49185800-49186200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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