Variant report

Variant	rs28848914
Chromosome Location	chr8:95544521-95544522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95521196..95523567-chr8:95542412..95544633,2	MCF-7	breast:
2	chr8:95536103..95541001-chr8:95541149..95546680,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10086307	0.92[EUR][1000 genomes]
rs10086311	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10087221	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10089982	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10090029	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10090628	0.92[EUR][1000 genomes]
rs10093542	0.92[EUR][1000 genomes]
rs10094155	0.96[EUR][1000 genomes]
rs10094298	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10094477	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10095474	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10095883	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10097107	0.92[EUR][1000 genomes]
rs10098298	0.92[EUR][1000 genomes]
rs10098682	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10102139	0.92[EUR][1000 genomes]
rs10103436	0.92[EUR][1000 genomes]
rs10104301	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10104797	0.92[EUR][1000 genomes]
rs10105476	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10106455	0.92[EUR][1000 genomes]
rs10110389	0.92[EUR][1000 genomes]
rs10111251	0.92[EUR][1000 genomes]
rs10217108	0.92[EUR][1000 genomes]
rs10441536	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10441537	0.92[EUR][1000 genomes]
rs1055798	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12334369	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12334578	0.92[EUR][1000 genomes]
rs12334783	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12334844	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12334990	0.96[EUR][1000 genomes]
rs12335104	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13438933	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13438940	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13439154	0.92[EUR][1000 genomes]
rs13439558	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13439676	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2119461	0.96[EUR][1000 genomes]
rs2381883	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28386976	0.92[EUR][1000 genomes]
rs28397924	0.92[EUR][1000 genomes]
rs28406352	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28409018	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28420254	0.92[EUR][1000 genomes]
rs28436849	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28449797	0.92[EUR][1000 genomes]
rs28475734	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28480604	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28481457	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28498495	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28502182	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28524089	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28526027	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28539788	0.92[EUR][1000 genomes]
rs28542193	0.92[EUR][1000 genomes]
rs28563951	0.96[EUR][1000 genomes]
rs28564036	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28572173	0.92[EUR][1000 genomes]
rs28608052	0.92[EUR][1000 genomes]
rs28634264	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28666401	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28681034	0.92[EUR][1000 genomes]
rs28775004	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28805925	0.96[EUR][1000 genomes]
rs28829590	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3136421	0.92[EUR][1000 genomes]
rs4567002	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56859277	0.92[EUR][1000 genomes]
rs57897120	0.92[EUR][1000 genomes]
rs6992902	0.92[EUR][1000 genomes]
rs6998829	0.92[EUR][1000 genomes]
rs73695616	0.92[EUR][1000 genomes]
rs73695617	0.92[EUR][1000 genomes]
rs73695619	0.92[EUR][1000 genomes]
rs73695620	0.92[EUR][1000 genomes]
rs73695622	0.92[EUR][1000 genomes]
rs73695624	0.92[EUR][1000 genomes]
rs73698013	0.92[EUR][1000 genomes]
rs7835534	0.89[AFR][1000 genomes]
rs8117	0.96[EUR][1000 genomes]
rs9297938	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
6	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
9	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:95534200-95545000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:95535400-95556000	Weak transcription	Fetal Heart	heart
12	chr8:95535800-95549800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:95535800-95555600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:95536000-95555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:95536200-95549200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:95536400-95552200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:95536800-95546600	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr8:95536800-95549800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:95536800-95550600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:95536800-95551400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:95536800-95552400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:95537000-95545200	Strong transcription	Fetal Brain Female	brain
25	chr8:95537000-95545200	Strong transcription	HepG2	liver
26	chr8:95537000-95547000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:95537000-95547800	Strong transcription	Brain Anterior Caudate	brain
28	chr8:95537000-95548000	Strong transcription	Thymus	Thymus
29	chr8:95537000-95548400	Strong transcription	Brain Hippocampus Middle	brain
30	chr8:95537000-95548400	Strong transcription	Hela-S3	cervix
31	chr8:95537000-95549000	Strong transcription	GM12878-XiMat	blood
32	chr8:95537000-95549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:95537000-95550600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:95537000-95550600	Strong transcription	Fetal Lung	lung
35	chr8:95537000-95550800	Strong transcription	Dnd41	blood
36	chr8:95537000-95551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:95537000-95552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:95537000-95552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:95537000-95552400	Strong transcription	Primary B cells from cord blood	blood
40	chr8:95537000-95552400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:95537000-95552400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:95537000-95552400	Strong transcription	Adipose Nuclei	Adipose
43	chr8:95537000-95552400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:95537000-95552400	Strong transcription	Placenta	Placenta
45	chr8:95537000-95552600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:95537000-95552600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:95537000-95552600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:95537000-95553400	Strong transcription	Liver	Liver
49	chr8:95537000-95557400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood

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