Variant report

Variant	rs72686932
Chromosome Location	chr8:103884386-103884387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs11989703	0.88[AFR][1000 genomes]
rs3758091	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60470921	1.00[EUR][1000 genomes]
rs72667203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667217	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667221	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667222	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667223	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667224	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667225	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667226	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667231	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.82[EUR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686931	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686935	1.00[EUR][1000 genomes];1.00[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
3	chr8:103877800-103886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
6	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:103878200-103906600	Weak transcription	Ovary	ovary
12	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
15	chr8:103878800-103884400	Weak transcription	Small Intestine	intestine
16	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
19	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:103881000-103899000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:103881200-103884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:103883200-103893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:103883600-103884400	Enhancers	NHDF-Ad	bronchial
26	chr8:103883600-103884600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:103883800-103884400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:103883800-103884400	Enhancers	Hela-S3	cervix
29	chr8:103883800-103884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103884000-103884400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:103884000-103884600	Flanking Active TSS	Placenta	Placenta
32	chr8:103884000-103885200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:103884200-103884400	ZNF genes & repeats	Aorta	Aorta
34	chr8:103884200-103884800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:103884200-103885000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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