Variant report

Variant	rs28510966
Chromosome Location	chr8:92093471-92093472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92092927..92094497-chr8:92095289..92097717,2	K562	blood:
2	chr8:92081844..92083995-chr8:92093391..92096474,3	MCF-7	breast:
3	chr8:92092927..92094814-chr8:92094943..92097717,2	K562	blood:
4	chr8:91995709..91999580-chr8:92091077..92094584,3	K562	blood:
5	chr8:92092941..92095502-chr8:92404401..92406337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10216509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10956789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28423010	1.00[AMR][1000 genomes]
rs28444195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9987346	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92094600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92083200-92095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
5	chr8:92083400-92094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
7	chr8:92083400-92103600	Weak transcription	Lung	lung
8	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:92083600-92093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:92083600-92094600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:92083600-92094600	Weak transcription	Fetal Stomach	stomach
12	chr8:92083600-92103600	Weak transcription	Gastric	stomach
13	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
18	chr8:92083800-92094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:92083800-92103400	Weak transcription	Colonic Mucosa	Colon
20	chr8:92084000-92093600	Strong transcription	Placenta	Placenta
21	chr8:92084000-92097400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:92084000-92097800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:92084000-92098600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:92084000-92103600	Strong transcription	HSMM	muscle
25	chr8:92084000-92104000	Weak transcription	Thymus	Thymus
26	chr8:92084000-92107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:92084200-92098400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:92084200-92104800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:92084400-92095200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:92084400-92097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:92084600-92096800	Strong transcription	K562	blood
34	chr8:92084600-92097600	Strong transcription	HMEC	breast
35	chr8:92084600-92100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:92084600-92105800	Weak transcription	Fetal Brain Male	brain
37	chr8:92084800-92098000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:92084800-92098200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:92084800-92099400	Strong transcription	Liver	Liver
40	chr8:92084800-92109000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:92085000-92094800	Strong transcription	Adipose Nuclei	Adipose
42	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
43	chr8:92085400-92094800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:92085400-92101200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:92085600-92096800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:92086400-92100800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:92087000-92104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:92087400-92094800	Strong transcription	Primary T cells from cord blood	blood
49	chr8:92087400-92101000	Weak transcription	Fetal Brain Female	brain
50	chr8:92087600-92107400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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