Variant report

Variant	rs28396549
Chromosome Location	chr8:96107674-96107675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
2	chr8:96106555..96108978-chr8:96268988..96271569,2	K562	blood:
3	chr8:96100149..96103800-chr8:96104108..96108014,6	K562	blood:
4	chr8:96104764..96108289-chr8:96108650..96112287,3	K562	blood:
5	chr8:96105550..96111124-chr8:96111232..96115383,7	K562	blood:
6	chr8:96036091..96038871-chr8:96106229..96108603,2	MCF-7	breast:
7	chr17:56735002..56737611-chr8:96106065..96108769,2	MCF-7	breast:
8	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000254248	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11777952	0.81[AFR][1000 genomes]
rs1530258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16917322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28557120	1.00[EUR][1000 genomes]
rs60725713	0.88[AFR][1000 genomes]
rs73262475	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:96100400-96113600	Weak transcription	Lung	lung
4	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:96102800-96112000	Weak transcription	A549	lung
8	chr8:96103000-96108400	Weak transcription	HMEC	breast
9	chr8:96103000-96112000	Weak transcription	Osteobl	bone
10	chr8:96103200-96108400	Weak transcription	NHEK	skin
11	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:96103600-96110000	Weak transcription	Fetal Thymus	thymus
13	chr8:96104600-96109400	Enhancers	Placenta	Placenta
14	chr8:96106000-96108000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:96106000-96111400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:96106200-96109400	Enhancers	K562	blood
17	chr8:96106200-96111800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:96106200-96112200	Enhancers	GM12878-XiMat	blood
19	chr8:96106600-96112000	Weak transcription	Primary B cells from cord blood	blood
20	chr8:96106800-96110800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:96107000-96107800	Weak transcription	Spleen	Spleen
22	chr8:96107200-96107800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:96107200-96112000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:96107400-96108000	Enhancers	NH-A	brain
25	chr8:96107400-96110000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:96107400-96112000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:96107600-96107800	Enhancers	HepG2	liver
28	chr8:96107600-96108000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:96107600-96108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:96107600-96109000	Enhancers	Hela-S3	cervix
31	chr8:96107600-96109200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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