Variant report

Variant	rs73330790
Chromosome Location	chr17:59445399-59445400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
2	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57039216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58987875	1.00[AMR][1000 genomes]
rs59586391	1.00[AMR][1000 genomes]
rs7209147	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330773	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330774	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332706	0.85[AMR][1000 genomes]
rs8067783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8068680	0.85[AMR][1000 genomes]
rs8072176	1.00[AMR][1000 genomes]
rs8076784	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59427800-59450000	Weak transcription	Ovary	ovary
2	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
3	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:59431200-59446200	Weak transcription	Lung	lung
5	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
7	chr17:59438200-59445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
9	chr17:59439200-59454400	Weak transcription	Hela-S3	cervix
10	chr17:59439400-59446400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:59440200-59448200	Weak transcription	Fetal Brain Female	brain
12	chr17:59440200-59462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:59440800-59452000	Weak transcription	Fetal Kidney	kidney
14	chr17:59441600-59445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:59441600-59445600	Weak transcription	Pancreas	Pancrea
16	chr17:59441600-59446000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:59441600-59462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:59442800-59454000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:59443000-59446800	Enhancers	Fetal Heart	heart
20	chr17:59443600-59445600	Enhancers	Adipose Nuclei	Adipose
21	chr17:59443800-59445400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:59444000-59446800	Weak transcription	Spleen	Spleen
23	chr17:59444000-59447200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:59444000-59457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:59444200-59446000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:59444200-59460400	Weak transcription	Left Ventricle	heart
27	chr17:59444400-59445400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:59444400-59445600	Weak transcription	Fetal Stomach	stomach
29	chr17:59444400-59450200	Weak transcription	Liver	Liver
30	chr17:59444400-59467000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:59444600-59446200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:59444600-59456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:59444600-59458400	Weak transcription	Brain Anterior Caudate	brain
34	chr17:59444600-59459800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:59444600-59460600	Weak transcription	Right Ventricle	heart
36	chr17:59444600-59473400	Weak transcription	Right Atrium	heart
37	chr17:59444800-59445400	Weak transcription	Primary T cells from cord blood	blood
38	chr17:59444800-59446800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr17:59444800-59447000	Weak transcription	Gastric	stomach
40	chr17:59445000-59445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:59445000-59446000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:59445000-59447200	Enhancers	HepG2	liver
43	chr17:59445000-59449400	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:59445000-59449800	Weak transcription	Fetal Lung	lung
45	chr17:59445000-59462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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