Variant report

Variant	rs28452766
Chromosome Location	chr8:99380448-99380449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99373069..99375307-chr8:99379575..99381805,2	K562	blood:
2	chr8:99379179..99380825-chr8:99393118..99395481,2	K562	blood:
3	chr8:99303887..99307017-chr8:99378678..99381266,3	MCF-7	breast:
4	chr8:99305763..99307552-chr8:99379787..99381320,2	MCF-7	breast:
5	chr8:99371126..99375307-chr8:99376656..99381075,4	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10955167	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13262430	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16896921	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16896929	0.91[EUR][1000 genomes]
rs35961136	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6468634	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6468635	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7001549	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99377400-99380600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:99377400-99384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99377400-99384800	Weak transcription	Right Atrium	heart
4	chr8:99377600-99380800	Weak transcription	Fetal Brain Male	brain
5	chr8:99377600-99384200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:99377800-99380600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:99377800-99381000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:99377800-99381000	Enhancers	NHDF-Ad	bronchial
9	chr8:99377800-99381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:99378800-99381400	Enhancers	NHLF	lung
11	chr8:99378800-99386000	Enhancers	Fetal Heart	heart
12	chr8:99379000-99380600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:99379000-99381200	Enhancers	Pancreas	Pancrea
14	chr8:99379000-99381200	Enhancers	Right Ventricle	heart
15	chr8:99379000-99382600	Enhancers	Fetal Stomach	stomach
16	chr8:99379000-99383000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:99379000-99386800	Enhancers	Ovary	ovary
18	chr8:99379200-99380600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:99379200-99385000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:99379400-99380600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:99379400-99382000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:99379400-99383600	Enhancers	Fetal Lung	lung
23	chr8:99379600-99380600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:99379600-99380800	Flanking Active TSS	Osteobl	bone
25	chr8:99379600-99381200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:99379600-99381200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:99379600-99381200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:99379600-99381400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:99379600-99381600	Enhancers	Fetal Kidney	kidney
30	chr8:99379800-99380600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:99379800-99380600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr8:99379800-99380600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:99379800-99380600	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:99379800-99380800	Enhancers	Fetal Muscle Leg	muscle
35	chr8:99379800-99381000	Enhancers	Left Ventricle	heart
36	chr8:99379800-99381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:99379800-99381200	Enhancers	Placenta	Placenta
38	chr8:99379800-99381600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr8:99380000-99381000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:99380000-99381400	Enhancers	NH-A	brain
41	chr8:99380000-99382000	Weak transcription	Lung	lung
42	chr8:99380200-99380600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:99380200-99380800	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:99380200-99381000	Enhancers	Gastric	stomach
45	chr8:99380400-99380600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr8:99380400-99380800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:99380400-99381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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