Variant report

Variant	rs8079443
Chromosome Location	chr17:66383772-66383773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66283450..66289773-chr17:66378313..66385560,13	MCF-7	breast:
2	chr17:66284621..66288166-chr17:66381787..66384144,3	MCF-7	breast:
3	chr17:66377922..66382043-chr17:66382390..66387412,6	MCF-7	breast:
4	chr17:66373660..66375997-chr17:66382918..66384615,2	MCF-7	breast:
5	chr17:66383531..66384260-chr17:66431940..66432674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10468443	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11650971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11654682	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654993	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11654995	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11655081	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11657775	0.84[JPT][hapmap]
rs16972924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28483915	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28711365	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57451312	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57873715	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61502349	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6501421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6501422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6501423	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7208344	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7215499	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs7220423	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7224186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72841850	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72841851	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72841853	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72841855	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv960210	chr17:66381299-66386674	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr17:66374400-66385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:66374800-66384800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:66374800-66391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:66374800-66391000	Weak transcription	Esophagus	oesophagus
7	chr17:66375400-66385400	Weak transcription	Stomach Mucosa	stomach
8	chr17:66378800-66389800	Enhancers	Liver	Liver
9	chr17:66379200-66385800	Enhancers	Placenta	Placenta
10	chr17:66380400-66390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:66380400-66390400	Weak transcription	Thymus	Thymus
12	chr17:66380400-66391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:66380600-66383800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr17:66380600-66385400	Enhancers	Hela-S3	cervix
15	chr17:66380800-66387200	Enhancers	HepG2	liver
16	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
17	chr17:66381000-66384400	Enhancers	Right Atrium	heart
18	chr17:66381000-66384600	Enhancers	Left Ventricle	heart
19	chr17:66381000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:66381000-66393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
22	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
23	chr17:66381200-66383800	Enhancers	Pancreas	Pancrea
24	chr17:66381200-66383800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr17:66381200-66384000	Enhancers	Fetal Heart	heart
26	chr17:66381400-66384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:66381400-66384200	Weak transcription	Adipose Nuclei	Adipose
28	chr17:66381400-66384200	Weak transcription	NHDF-Ad	bronchial
29	chr17:66381400-66384600	Weak transcription	Dnd41	blood
30	chr17:66381400-66387200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:66381400-66390200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:66381400-66390400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:66381400-66391000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr17:66381600-66390800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:66382000-66391000	Weak transcription	Lung	lung
36	chr17:66382200-66383800	Enhancers	Fetal Lung	lung
37	chr17:66382200-66387400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:66382800-66384200	Weak transcription	Fetal Brain Female	brain
39	chr17:66382800-66391200	Weak transcription	Brain Hippocampus Middle	brain
40	chr17:66383000-66385000	Weak transcription	Fetal Thymus	thymus
41	chr17:66383000-66391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:66383000-66391000	Weak transcription	Aorta	Aorta
43	chr17:66383200-66387200	Weak transcription	NHLF	lung
44	chr17:66383200-66387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:66383400-66387200	Weak transcription	Osteobl	bone
46	chr17:66383600-66385600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:66383600-66387400	Weak transcription	Fetal Muscle Leg	muscle
48	chr17:66383600-66387400	Weak transcription	Psoas Muscle	Psoas
49	chr17:66383600-66388200	Weak transcription	Right Ventricle	heart
50	chr17:66383600-66388400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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