Variant report

Variant	rs72685182
Chromosome Location	chr8:103782867-103782868
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	chr8:103780400..103784390-chr8:103818096..103820509,3	MCF-7	breast:
2	chr8:103782079..103784444-chr8:103794138..103796323,2	MCF-7	breast:
3	chr8:103778765..103784253-chr8:103785133..103788553,5	MCF-7	breast:
4	chr8:103768858..103770441-chr8:103782319..103784370,2	MCF-7	breast:
5	chr8:103749609..103751555-chr8:103780958..103783384,2	MCF-7	breast:
6	chr8:103662477..103667937-chr8:103778259..103783622,7	MCF-7	breast:
7	chr8:103664561..103669175-chr8:103777642..103782938,9	MCF-7	breast:
8	chr8:103250581..103253575-chr8:103781555..103783212,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10100732	0.97[ASN][1000 genomes]
rs28608974	0.97[ASN][1000 genomes]
rs62522600	1.00[AFR][1000 genomes]
rs62524041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009612	0.93[ASN][1000 genomes]
rs72685183	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841186	0.97[ASN][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	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	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
4	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103776600-103790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:103778800-103783800	Enhancers	Fetal Thymus	thymus
3	chr8:103779000-103783600	Enhancers	Right Atrium	heart
4	chr8:103779000-103783800	Enhancers	Aorta	Aorta
5	chr8:103779200-103783000	Enhancers	Left Ventricle	heart
6	chr8:103779200-103783000	Enhancers	Lung	lung
7	chr8:103779200-103783400	Enhancers	Right Ventricle	heart
8	chr8:103779200-103783600	Enhancers	Pancreas	Pancrea
9	chr8:103779200-103783800	Enhancers	HMEC	breast
10	chr8:103779400-103783000	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:103779400-103783600	Enhancers	Adipose Nuclei	Adipose
12	chr8:103779400-103784000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:103779600-103783000	Enhancers	Psoas Muscle	Psoas
14	chr8:103779600-103783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:103779600-103783800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:103779600-103783800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:103779800-103783800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:103779800-103783800	Enhancers	NHEK	skin
19	chr8:103780400-103783200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:103780400-103791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:103780600-103783400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:103780600-103785600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103780600-103789000	Weak transcription	Gastric	stomach
24	chr8:103780600-103794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:103780800-103785600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:103781000-103783000	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:103781000-103788400	Weak transcription	Fetal Lung	lung
28	chr8:103781200-103783400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:103781200-103785800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:103781200-103786400	Weak transcription	Fetal Heart	heart
31	chr8:103781200-103788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:103781200-103788800	Weak transcription	Esophagus	oesophagus
33	chr8:103781400-103783000	Enhancers	Liver	Liver
34	chr8:103781400-103784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:103781400-103785800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:103781600-103783600	Enhancers	A549	lung
37	chr8:103781600-103786600	Weak transcription	Primary B cells from cord blood	blood
38	chr8:103781600-103793800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:103781800-103785600	Weak transcription	GM12878-XiMat	blood
40	chr8:103782000-103783800	Enhancers	Thymus	Thymus
41	chr8:103782000-103784000	Enhancers	Fetal Muscle Leg	muscle
42	chr8:103782000-103786600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:103782200-103783000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:103782400-103783000	Enhancers	Fetal Kidney	kidney
45	chr8:103782400-103783200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:103782600-103783600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:103782600-103783600	Weak transcription	Hela-S3	cervix
48	chr8:103782600-103785600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:103782600-103785600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:103782600-103785800	Weak transcription	Duodenum Mucosa	Duodenum

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