Variant report

Variant	rs60904747
Chromosome Location	chr17:66390218-66390219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66389337..66392339-chr17:66393132..66396716,3	K562	blood:
2	chr17:66286260..66290151-chr17:66389633..66391426,3	MCF-7	breast:
3	chr17:66286968..66289283-chr17:66387895..66390673,3	MCF-7	breast:
4	chr17:66390166..66392142-chr17:66393386..66395992,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108932	Chromatin interaction
ENSG00000141337	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3744302	0.85[EUR][1000 genomes]
rs57197811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60617109	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60617294	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6501428	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501429	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501430	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7211680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7211698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7218158	0.81[ASN][1000 genomes]
rs7222535	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076774	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8078085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66369000-66390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:66374800-66391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:66374800-66391000	Weak transcription	Esophagus	oesophagus
4	chr17:66380400-66390400	Weak transcription	Thymus	Thymus
5	chr17:66380400-66391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
7	chr17:66381000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:66381000-66393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
10	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
11	chr17:66381400-66390400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:66381400-66391000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr17:66381600-66390800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:66382000-66391000	Weak transcription	Lung	lung
15	chr17:66382800-66391200	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:66383000-66391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:66383000-66391000	Weak transcription	Aorta	Aorta
18	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:66383800-66391200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:66384000-66390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:66384000-66394400	Weak transcription	Fetal Heart	heart
22	chr17:66385400-66393000	Weak transcription	Hela-S3	cervix
23	chr17:66385600-66390600	Weak transcription	Dnd41	blood
24	chr17:66385600-66391000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:66385800-66390600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:66387800-66392600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:66388000-66394800	Weak transcription	Pancreas	Pancrea
28	chr17:66388200-66390800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:66388200-66391000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:66388200-66391200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:66388200-66391200	Enhancers	HepG2	liver
32	chr17:66388400-66390800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:66388600-66390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:66389800-66391000	Weak transcription	Liver	Liver
35	chr17:66390200-66391400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr17:66390200-66392000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:66390200-66394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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