Variant report

Variant	rs7220423
Chromosome Location	chr17:66388167-66388168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66290796..66293295-chr17:66387563..66389304,2	MCF-7	breast:
2	chr17:66286968..66289283-chr17:66387895..66390673,3	MCF-7	breast:
3	chr17:66386456..66388200-chr17:66391393..66393608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10468443	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11650971	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11654682	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11654993	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654995	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11655081	0.91[EUR][1000 genomes]
rs16972924	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28483915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28711365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57451312	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57873715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61502349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501421	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6501422	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6501423	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7208344	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7215499	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7224186	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841850	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72841851	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72841853	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841855	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079443	0.97[EUR][1000 genomes];0.93[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66354200-66390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:66369000-66390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:66374800-66391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:66374800-66391000	Weak transcription	Esophagus	oesophagus
5	chr17:66378800-66389800	Enhancers	Liver	Liver
6	chr17:66380400-66390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:66380400-66390400	Weak transcription	Thymus	Thymus
8	chr17:66380400-66391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
10	chr17:66381000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:66381000-66393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
13	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
14	chr17:66381400-66390200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr17:66381400-66390400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr17:66381400-66391000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr17:66381600-66390800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:66382000-66391000	Weak transcription	Lung	lung
19	chr17:66382800-66391200	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:66383000-66391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:66383000-66391000	Weak transcription	Aorta	Aorta
22	chr17:66383600-66388200	Weak transcription	Right Ventricle	heart
23	chr17:66383600-66388400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:66383800-66391200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:66384000-66390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:66384000-66394400	Weak transcription	Fetal Heart	heart
28	chr17:66385400-66393000	Weak transcription	Hela-S3	cervix
29	chr17:66385600-66390600	Weak transcription	Dnd41	blood
30	chr17:66385600-66391000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:66385800-66389200	Weak transcription	Fetal Thymus	thymus
32	chr17:66385800-66390600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:66387200-66388200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr17:66387200-66388200	Flanking Active TSS	HepG2	liver
35	chr17:66387400-66388200	Enhancers	Fetal Muscle Leg	muscle
36	chr17:66387400-66388200	Enhancers	Psoas Muscle	Psoas
37	chr17:66387400-66388200	Flanking Active TSS	Osteobl	bone
38	chr17:66387800-66388600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:66387800-66392600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:66388000-66388200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:66388000-66388200	Enhancers	Duodenum Mucosa	Duodenum
42	chr17:66388000-66388200	Enhancers	NHLF	lung
43	chr17:66388000-66388400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:66388000-66388400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:66388000-66388400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:66388000-66388400	Enhancers	NHDF-Ad	bronchial
47	chr17:66388000-66394800	Weak transcription	Pancreas	Pancrea

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