Variant report

Variant	rs72667217
Chromosome Location	chr8:103924874-103924875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103875800..103878358-chr8:103923422..103926354,2	K562	blood:
2	chr8:103922092..103927536-chr8:103936066..103939373,4	MCF-7	breast:
3	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:
4	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244052	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3808542	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4295632	0.85[AMR][1000 genomes]
rs60470921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72667203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667216	0.83[AMR][1000 genomes]
rs72667221	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667224	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667225	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667258	0.92[AMR][1000 genomes]
rs72667261	0.92[AMR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686931	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72686935	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
2	chr8:103917400-103925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103922200-103929600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:103922800-103925600	Weak transcription	Small Intestine	intestine
5	chr8:103922800-103929800	Weak transcription	Fetal Brain Male	brain
6	chr8:103922800-103930600	Weak transcription	Ovary	ovary
7	chr8:103923000-103925600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103923000-103925600	Weak transcription	Lung	lung
9	chr8:103923000-103925600	Weak transcription	Right Atrium	heart
10	chr8:103923000-103925600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:103923000-103925800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:103923000-103925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:103923000-103925800	Weak transcription	Aorta	Aorta
14	chr8:103923000-103925800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:103923000-103925800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:103923000-103925800	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:103923000-103926200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:103923000-103926400	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:103923000-103927200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:103923000-103927200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:103923000-103927200	Weak transcription	Pancreas	Pancrea
22	chr8:103923000-103929400	Weak transcription	Left Ventricle	heart
23	chr8:103923000-103929600	Weak transcription	Placenta	Placenta
24	chr8:103923000-103931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103923000-103931000	Weak transcription	Brain Substantia Nigra	brain
26	chr8:103923000-103931600	Weak transcription	Fetal Stomach	stomach
27	chr8:103923000-103932000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:103923200-103925600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:103923200-103925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:103923200-103925600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:103923200-103925600	Weak transcription	HSMMtube	muscle
32	chr8:103923200-103929800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:103923200-103931000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
35	chr8:103923400-103925600	Weak transcription	NH-A	brain
36	chr8:103923400-103925600	Weak transcription	Osteobl	bone
37	chr8:103923400-103925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:103923400-103931200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:103923400-103932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:103923600-103925600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:103923600-103925600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:103923600-103925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:103923600-103925600	Weak transcription	HSMM	muscle
44	chr8:103923600-103925600	Weak transcription	NHDF-Ad	bronchial
45	chr8:103923600-103925600	Weak transcription	NHLF	lung
46	chr8:103923600-103925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:103923600-103925800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:103923600-103926000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:103923600-103926600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:103923600-103928800	Weak transcription	A549	lung

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