Variant report

Variant	rs28539788
Chromosome Location	chr8:95535879-95535880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95533875..95536296-chr8:95564971..95566864,2	MCF-7	breast:
2	chr8:95533781..95536601-chr8:95538847..95541074,2	K562	blood:
3	chr8:95534517..95536607-chr8:95536674..95538361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction
ENSG00000253704	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10086307	0.92[EUR][1000 genomes]
rs10086311	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10087221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10089982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090029	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090628	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10093542	0.92[EUR][1000 genomes]
rs10094155	0.96[EUR][1000 genomes]
rs10094298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10094477	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10097107	0.92[EUR][1000 genomes]
rs10098298	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10098682	0.89[AFR][1000 genomes];1.00[AMR][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];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10105476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106455	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10110389	0.92[EUR][1000 genomes]
rs10111251	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10111789	0.91[AMR][1000 genomes]
rs10217108	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10441536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441537	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1055798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334578	0.92[EUR][1000 genomes]
rs12334783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334844	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334990	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12335104	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439154	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13439558	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2119461	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2381883	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28386976	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28397924	0.92[EUR][1000 genomes]
rs28406352	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28409018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28420254	0.92[EUR][1000 genomes]
rs28436849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28449797	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28475734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28480604	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28481457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28498495	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28502182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28524089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28526027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542193	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28563951	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28564036	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28572173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28608052	0.92[EUR][1000 genomes]
rs28634264	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28666401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28681034	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28775004	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28791815	0.83[AMR][1000 genomes]
rs28805925	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28829590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28848914	0.92[EUR][1000 genomes]
rs28897138	0.91[AMR][1000 genomes]
rs3136421	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4567002	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56859277	0.92[EUR][1000 genomes]
rs57897120	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6992902	0.92[EUR][1000 genomes]
rs6998829	0.92[EUR][1000 genomes]
rs73695616	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695617	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695619	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695620	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695622	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695624	0.85[AMR][1000 genomes];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	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
9	chr8:95517600-95538600	Weak transcription	Fetal Brain Male	brain
10	chr8:95517600-95540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:95520600-95536000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:95523800-95536800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:95523800-95539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:95524000-95538200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:95524000-95540400	Weak transcription	Colonic Mucosa	Colon
18	chr8:95525200-95538200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:95528000-95542400	Weak transcription	Pancreas	Pancrea
21	chr8:95528400-95538400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:95528400-95540800	Weak transcription	Spleen	Spleen
23	chr8:95528400-95541200	Weak transcription	Right Ventricle	heart
24	chr8:95528400-95542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:95531000-95537000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:95531000-95537000	Weak transcription	Fetal Brain Female	brain
27	chr8:95531400-95537000	Weak transcription	Hela-S3	cervix
28	chr8:95531400-95537400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:95531600-95536800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:95531600-95536800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:95531600-95537000	Weak transcription	Fetal Kidney	kidney
32	chr8:95531600-95537000	Weak transcription	A549	lung
33	chr8:95531600-95537000	Weak transcription	HSMMtube	muscle
34	chr8:95531600-95537000	Weak transcription	NHLF	lung
35	chr8:95531600-95537200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:95531600-95537200	Weak transcription	Left Ventricle	heart
37	chr8:95531600-95538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:95531600-95540200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:95531600-95540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:95531800-95537000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:95531800-95537000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:95531800-95537000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:95531800-95537000	Weak transcription	Fetal Lung	lung
44	chr8:95531800-95537400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:95531800-95537400	Weak transcription	NH-A	brain
46	chr8:95531800-95537800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:95531800-95538400	Weak transcription	Aorta	Aorta
48	chr8:95531800-95538600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:95532000-95536800	Weak transcription	HSMM	muscle
50	chr8:95532000-95537000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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