Variant report

Variant	rs28646042
Chromosome Location	chr8:117853345-117853346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
2	chr8:117800325..117801249-chr8:117852174..117853913,9	MCF-7	breast:
3	chr8:117800316..117801212-chr8:117852987..117854119,8	MCF-7	breast:
4	chr8:117847027..117848773-chr8:117852159..117854368,2	MCF-7	breast:
5	chr8:117849321..117852329-chr8:117852764..117857152,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10094918	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107209	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110234	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13276470	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348796	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348799	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16888879	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888927	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16888997	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889014	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889040	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17426067	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28705030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28877615	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34000422	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987652	0.92[EUR][1000 genomes];0.94[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117841000-117856800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:117844600-117856400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:117846000-117856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:117846200-117856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:117846800-117856200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:117848200-117858600	Weak transcription	HepG2	liver
8	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:117850000-117856000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:117850000-117856600	Weak transcription	HSMMtube	muscle
11	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:117850400-117855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:117850400-117857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:117850800-117858200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:117850800-117858800	Weak transcription	Ovary	ovary
16	chr8:117851000-117856400	Weak transcription	NHLF	lung
17	chr8:117851800-117853600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:117851800-117854800	Weak transcription	Dnd41	blood
19	chr8:117851800-117855800	Weak transcription	Placenta	Placenta
20	chr8:117851800-117856400	Weak transcription	Primary T cells from cord blood	blood
21	chr8:117852000-117856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:117852000-117856000	Weak transcription	Brain Germinal Matrix	brain
23	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:117852400-117857600	Weak transcription	A549	lung
25	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
26	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
27	chr8:117852600-117857000	Weak transcription	Hela-S3	cervix
28	chr8:117852600-117857800	Weak transcription	HMEC	breast
29	chr8:117852600-117858000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:117852800-117856000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:117852800-117856000	Weak transcription	Fetal Thymus	thymus
33	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
34	chr8:117853000-117855400	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:117853000-117856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:117853000-117856000	Weak transcription	Lung	lung
37	chr8:117853000-117856200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:117853000-117856400	Weak transcription	Liver	Liver
39	chr8:117853000-117856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:117853200-117853400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:117853200-117853400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:117853200-117853400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:117853200-117853400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:117853200-117853400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:117853200-117853400	Enhancers	Esophagus	oesophagus
47	chr8:117853200-117854000	Enhancers	Fetal Lung	lung
48	chr8:117853200-117856000	Weak transcription	Fetal Stomach	stomach
49	chr8:117853200-117856200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:117853200-117856400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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