Variant report

Variant	rs28504672
Chromosome Location	chr8:96123799-96123800
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96120694..96123843-chr8:96123971..96127404,4	K562	blood:
2	chr8:96093323..96095396-chr8:96123393..96125579,2	MCF-7	breast:
3	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
4	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
5	chr8:96079008..96081719-chr8:96123344..96126236,2	K562	blood:
6	chr8:96097556..96101396-chr8:96123203..96126777,5	MCF-7	breast:
7	chr8:95653231..95654962-chr8:96122939..96124823,2	MCF-7	breast:
8	chr8:96120310..96131373-chr8:96143717..96153210,36	MCF-7	breast:
9	chr8:96114692..96118585-chr8:96123504..96126472,3	K562	blood:
10	chr8:96123068..96125522-chr8:96208069..96210345,2	MCF-7	breast:
11	chr8:96108303..96116345-chr8:96121938..96127499,21	MCF-7	breast:
12	chr8:96075699..96088634-chr8:96121923..96127068,15	MCF-7	breast:
13	chr8:96123364..96125766-chr8:96152623..96155722,3	MCF-7	breast:
14	chr8:96122201..96128454-chr8:96143807..96149954,24	MCF-7	breast:
15	chr8:96122158..96124465-chr8:96128048..96130370,2	K562	blood:
16	chr8:96097290..96101998-chr8:96121325..96126808,13	MCF-7	breast:
17	chr8:96123602..96127080-chr8:96146091..96148801,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104413	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10087335	1.00[AMR][1000 genomes]
rs10089832	1.00[AMR][1000 genomes]
rs10093849	1.00[AMR][1000 genomes]
rs10100231	1.00[AMR][1000 genomes]
rs10104137	1.00[AFR][1000 genomes]
rs10107484	1.00[AMR][1000 genomes]
rs10216558	1.00[AMR][1000 genomes]
rs10216590	1.00[AMR][1000 genomes]
rs12334340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438816	1.00[AMR][1000 genomes]
rs28370425	1.00[AMR][1000 genomes]
rs28421068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431001	1.00[AMR][1000 genomes]
rs28454923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569283	1.00[AMR][1000 genomes]
rs28645781	1.00[AMR][1000 genomes]
rs28713284	1.00[AMR][1000 genomes]
rs28736358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278574	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96113800-96127800	Weak transcription	Right Ventricle	heart
2	chr8:96121000-96124600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:96121800-96126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:96121800-96127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:96121800-96128200	Enhancers	Stomach Mucosa	stomach
6	chr8:96122200-96124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:96122200-96126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:96122400-96124000	Enhancers	NHLF	lung
9	chr8:96122400-96126600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr8:96122400-96126800	Enhancers	Pancreas	Pancrea
11	chr8:96122400-96128000	Enhancers	HMEC	breast
12	chr8:96122400-96128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:96122400-96128400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:96122600-96124000	Enhancers	Osteobl	bone
15	chr8:96122600-96124400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:96122600-96126400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:96122800-96124000	Enhancers	HSMMtube	muscle
18	chr8:96123000-96123800	Enhancers	NH-A	brain
19	chr8:96123000-96124000	Enhancers	Fetal Heart	heart
20	chr8:96123000-96124000	Enhancers	Placenta	Placenta
21	chr8:96123000-96124000	Enhancers	Fetal Stomach	stomach
22	chr8:96123000-96124200	Enhancers	HepG2	liver
23	chr8:96123000-96124400	Enhancers	Gastric	stomach
24	chr8:96123000-96124800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:96123000-96125400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr8:96123000-96126600	Enhancers	Small Intestine	intestine
27	chr8:96123200-96124000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:96123200-96124000	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:96123200-96124200	Enhancers	Fetal Muscle Leg	muscle
30	chr8:96123200-96124800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:96123200-96125000	Enhancers	Rectal Smooth Muscle	rectum
32	chr8:96123200-96125600	Enhancers	Colon Smooth Muscle	Colon
33	chr8:96123200-96126000	Enhancers	Fetal Thymus	thymus
34	chr8:96123200-96126000	Enhancers	Lung	lung
35	chr8:96123200-96126200	Enhancers	Colonic Mucosa	Colon
36	chr8:96123200-96126600	Enhancers	Esophagus	oesophagus
37	chr8:96123200-96126600	Enhancers	Fetal Intestine Small	intestine
38	chr8:96123200-96128000	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:96123400-96123800	Flanking Active TSS	NHEK	skin
40	chr8:96123400-96124200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:96123400-96124600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:96123400-96124600	Enhancers	A549	lung
43	chr8:96123400-96126000	Enhancers	Liver	Liver
44	chr8:96123600-96123800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:96123600-96125800	Weak transcription	K562	blood
46	chr8:96123600-96127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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