Variant report

Variant	rs28617317
Chromosome Location	chr8:127850420-127850421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127849961..127854048-chr8:127854713..127860204,4	K562	blood:
3	chr8:127844604..127847451-chr8:127850237..127852011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253438	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10106550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10156279	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10216500	0.85[AMR][1000 genomes]
rs10216660	0.85[AMR][1000 genomes]
rs10216757	0.85[AMR][1000 genomes]
rs10216925	0.85[AMR][1000 genomes]
rs10216939	0.85[AMR][1000 genomes]
rs10505487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10505489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505490	0.88[ASN][1000 genomes]
rs10956330	0.92[ASN][1000 genomes]
rs10956331	0.95[ASN][1000 genomes]
rs10956332	0.91[ASN][1000 genomes]
rs11779539	0.94[ASN][1000 genomes]
rs11986860	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11987858	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11989801	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992578	0.98[ASN][1000 genomes]
rs12545906	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547157	0.85[AMR][1000 genomes]
rs13248340	0.88[ASN][1000 genomes]
rs13254736	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1400462	0.95[ASN][1000 genomes]
rs16901734	0.85[AMR][1000 genomes]
rs16901776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16901778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16901783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901792	0.95[ASN][1000 genomes]
rs1873184	0.85[AMR][1000 genomes]
rs1873185	0.85[AMR][1000 genomes]
rs1972123	0.95[ASN][1000 genomes]
rs1973699	0.94[ASN][1000 genomes]
rs28409662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2893579	0.93[ASN][1000 genomes]
rs4870987	0.95[ASN][1000 genomes]
rs4870989	0.95[ASN][1000 genomes]
rs4870990	0.95[ASN][1000 genomes]
rs55814003	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6983290	0.85[AMR][1000 genomes]
rs6984670	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6993010	0.96[ASN][1000 genomes]
rs6993972	0.85[AMR][1000 genomes]
rs6998093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7005373	0.85[AMR][1000 genomes]
rs7012160	0.85[AMR][1000 genomes]
rs7016582	0.85[AMR][1000 genomes]
rs7016606	0.85[AMR][1000 genomes]
rs72722244	0.81[AMR][1000 genomes]
rs72722245	0.81[AMR][1000 genomes]
rs7813029	0.85[AMR][1000 genomes]
rs7816751	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818682	0.83[ASN][1000 genomes]
rs7827311	0.92[ASN][1000 genomes]
rs7828801	0.95[ASN][1000 genomes]
rs7833497	0.95[ASN][1000 genomes]
rs7839993	0.95[ASN][1000 genomes]
rs7841842	0.94[ASN][1000 genomes]
rs975788	0.92[ASN][1000 genomes]
rs979963	0.95[ASN][1000 genomes]
rs979964	0.95[ASN][1000 genomes]
rs979965	0.96[ASN][1000 genomes]
rs979966	0.96[ASN][1000 genomes]
rs986046	0.87[ASN][1000 genomes]
rs9987182	0.85[ASN][1000 genomes]
rs9987223	0.91[ASN][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	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846200-127851600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:127846600-127851600	Weak transcription	Stomach Mucosa	stomach
3	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:127846800-127851000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:127846800-127851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:127846800-127851400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:127846800-127851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:127846800-127851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:127846800-127851400	Weak transcription	HMEC	breast
10	chr8:127846800-127851800	Weak transcription	Gastric	stomach
11	chr8:127846800-127851800	Weak transcription	NHEK	skin
12	chr8:127846800-127852200	Weak transcription	Fetal Heart	heart
13	chr8:127846800-127854000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:127846800-127857200	Weak transcription	Fetal Kidney	kidney
15	chr8:127847000-127850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:127847000-127851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:127847000-127854400	Weak transcription	Placenta	Placenta
18	chr8:127847600-127851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:127847600-127857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:127848000-127852600	Weak transcription	NHLF	lung
22	chr8:127848200-127852600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:127848400-127851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:127849600-127856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:127849800-127853200	Enhancers	NHDF-Ad	bronchial
26	chr8:127850000-127853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:127850200-127850600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:127850200-127850600	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:127850200-127850600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:127850400-127850800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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