Variant report

Variant	rs73330774
Chromosome Location	chr17:59438801-59438802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59438764..59441005-chr20:49347051..49349410,2	MCF-7	breast:
2	chr17:59435175..59440697-chr20:49376676..49379912,5	MCF-7	breast:
3	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
4	chr17:59437942..59439153-chr20:49410982..49411919,5	MCF-7	breast:
5	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58987875	1.00[AMR][1000 genomes]
rs59586391	1.00[AMR][1000 genomes]
rs7209147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330782	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330790	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332706	0.85[AMR][1000 genomes]
rs8067783	0.87[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59388800-59444200	Weak transcription	Primary T cells from cord blood	blood
2	chr17:59416200-59444800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:59416800-59439200	Weak transcription	Psoas Muscle	Psoas
4	chr17:59427600-59444000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:59427800-59450000	Weak transcription	Ovary	ovary
6	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
7	chr17:59431000-59439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:59431000-59439400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:59431200-59446200	Weak transcription	Lung	lung
11	chr17:59431600-59443800	Weak transcription	Spleen	Spleen
12	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
14	chr17:59434400-59440400	Enhancers	HepG2	liver
15	chr17:59435400-59439400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:59436200-59439400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:59436600-59439800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:59437600-59439200	Enhancers	NHLF	lung
19	chr17:59437600-59439400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:59437600-59439400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:59437800-59439000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:59437800-59439200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:59437800-59439200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:59437800-59439200	Enhancers	Adipose Nuclei	Adipose
25	chr17:59437800-59439200	Enhancers	Hela-S3	cervix
26	chr17:59437800-59439200	Enhancers	NHDF-Ad	bronchial
27	chr17:59437800-59439200	Enhancers	Osteobl	bone
28	chr17:59437800-59439400	Enhancers	HMEC	breast
29	chr17:59437800-59439400	Enhancers	HSMM	muscle
30	chr17:59437800-59440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:59437800-59440600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:59437800-59440600	Enhancers	NHEK	skin
33	chr17:59438000-59439600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:59438200-59445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
36	chr17:59438400-59439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:59438600-59439400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:59438600-59441200	Weak transcription	A549	lung
39	chr17:59438600-59443600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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