Variant report

Variant	rs28668860
Chromosome Location	chr8:49782453-49782454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49776905..49778799-chr8:49782300..49784837,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088848	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10091785	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10093573	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10113231	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11987212	0.85[AMR][1000 genomes]
rs12334368	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12679730	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16938987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16938995	1.00[ASN][1000 genomes]
rs16939033	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16939049	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16939100	0.85[AMR][1000 genomes]
rs28513268	0.92[ASN][1000 genomes]
rs28537094	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28636874	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28750315	1.00[AMR][1000 genomes]
rs28776510	1.00[AMR][1000 genomes]
rs28836871	1.00[AMR][1000 genomes]
rs56255608	0.85[AMR][1000 genomes]
rs59367437	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6999256	0.84[AMR][1000 genomes]
rs7009872	0.85[AMR][1000 genomes]
rs73577412	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73577459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73577461	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73577462	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73577463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73577464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73680733	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73680742	1.00[AMR][1000 genomes]
rs73680744	1.00[AMR][1000 genomes]
rs73680746	1.00[AMR][1000 genomes]
rs7460794	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9886604	0.85[AMR][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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49780600-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:49780600-49782800	Weak transcription	Spleen	Spleen
3	chr8:49781400-49786400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:49781600-49787000	Enhancers	Fetal Brain Male	brain
5	chr8:49781800-49782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:49781800-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:49782200-49782600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:49782200-49782600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
9	chr8:49782200-49783200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:49782200-49783400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr8:49782400-49782600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:49782400-49782600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr8:49782400-49782600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr8:49782400-49782600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:49782400-49782600	Bivalent Enhancer	Brain Angular Gyrus	brain
26	chr8:49782400-49782600	Enhancers	Esophagus	oesophagus
27	chr8:49782400-49782600	Flanking Active TSS	Fetal Brain Female	brain
28	chr8:49782400-49782600	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr8:49782400-49782600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr8:49782400-49782600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:49782400-49782600	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr8:49782400-49782600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr8:49782400-49782600	Bivalent Enhancer	A549	lung
34	chr8:49782400-49782600	Flanking Active TSS	HUVEC	blood vessel
35	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	NH-A	brain
36	chr8:49782400-49782600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
37	chr8:49782400-49782800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:49782400-49782800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:49782400-49782800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:49782400-49782800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:49782400-49782800	Enhancers	Liver	Liver
42	chr8:49782400-49782800	Flanking Active TSS	Ovary	ovary
43	chr8:49782400-49782800	Enhancers	Pancreas	Pancrea
44	chr8:49782400-49782800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr8:49782400-49782800	Flanking Active TSS	Osteobl	bone
46	chr8:49782400-49783000	Enhancers	Placenta	Placenta
47	chr8:49782400-49783000	Bivalent Enhancer	Lung	lung
48	chr8:49782400-49783000	Flanking Active TSS	NHEK	skin
49	chr8:49782400-49783200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr8:49782400-49783200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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