Variant report

Variant	rs28489455
Chromosome Location	chr8:92104365-92104366
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	chr8:92103952..92106824-chr8:92110446..92114207,3	K562	blood:
2	chr8:92100867..92102583-chr8:92104355..92106684,3	K562	blood:

Variant related genes	Relation type
ENSG00000214954	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11985772	1.00[AMR][1000 genomes]
rs11987648	1.00[AMR][1000 genomes]
rs11991531	1.00[AMR][1000 genomes]
rs11993219	0.89[AFR][1000 genomes]
rs55713145	1.00[AMR][1000 genomes]
rs56035719	0.93[AFR][1000 genomes]
rs56854299	0.83[AFR][1000 genomes]
rs57710051	1.00[AMR][1000 genomes]
rs58715526	1.00[AMR][1000 genomes]
rs59362647	0.83[AFR][1000 genomes]
rs60529729	1.00[AMR][1000 genomes]
rs61515687	1.00[AFR][1000 genomes]
rs73694359	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694360	0.89[AFR][1000 genomes]
rs73694366	0.89[AFR][1000 genomes]
rs73694368	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694369	0.97[AFR][1000 genomes]
rs73694375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694376	0.89[AFR][1000 genomes]
rs73694377	0.81[AFR][1000 genomes]
rs73694384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694386	0.83[AFR][1000 genomes]
rs73694387	0.83[AFR][1000 genomes]
rs73694389	0.83[AFR][1000 genomes]
rs73697108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697131	1.00[AMR][1000 genomes]
rs73697133	1.00[AMR][1000 genomes]
rs73697148	1.00[AMR][1000 genomes]
rs73697151	1.00[AMR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
9	chr8:92084000-92107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:92084200-92104800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:92084600-92105800	Weak transcription	Fetal Brain Male	brain
14	chr8:92084800-92109000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
16	chr8:92087600-92107400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:92088000-92111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:92088400-92104800	Strong transcription	Primary B cells from cord blood	blood
19	chr8:92088800-92105800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:92089000-92108000	Weak transcription	Fetal Heart	heart
21	chr8:92090800-92109200	Strong transcription	Dnd41	blood
22	chr8:92091000-92108600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:92091200-92133800	Weak transcription	NHLF	lung
24	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:92092600-92111000	Weak transcription	HepG2	liver
26	chr8:92092600-92116800	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
28	chr8:92092800-92106600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:92092800-92111400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
34	chr8:92095400-92104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:92096800-92108200	Weak transcription	K562	blood
37	chr8:92096800-92135000	Weak transcription	Hela-S3	cervix
38	chr8:92097200-92127000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:92097400-92126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:92097400-92130800	Weak transcription	Osteobl	bone
41	chr8:92097400-92146200	Weak transcription	Psoas Muscle	Psoas
42	chr8:92097600-92106400	Weak transcription	HMEC	breast
43	chr8:92098000-92107800	Weak transcription	Fetal Kidney	kidney
44	chr8:92098000-92111200	Weak transcription	Brain Germinal Matrix	brain
45	chr8:92098200-92104400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:92098200-92106400	Weak transcription	A549	lung
47	chr8:92098200-92124600	Weak transcription	HUVEC	blood vessel
48	chr8:92098600-92122800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:92098800-92109200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:92099000-92110200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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