Variant report

Variant	rs17389488
Chromosome Location	chr1:94484123-94484124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94471999..94474175-chr1:94483788..94486677,2	MCF-7	breast:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:

Variant related genes	Relation type
ENSG00000023909	Chromatin interaction
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11803885	0.89[EUR][1000 genomes]
rs17110885	0.92[EUR][1000 genomes]
rs17110889	0.92[EUR][1000 genomes]
rs17110891	0.89[EUR][1000 genomes]
rs17110905	0.89[EUR][1000 genomes]
rs17110916	0.89[EUR][1000 genomes]
rs17389899	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41292681	0.89[EUR][1000 genomes]
rs56253197	0.87[EUR][1000 genomes]
rs56307710	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7543524	0.87[EUR][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	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546850	chr1:94479468-94485277	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94475400-94485600	Weak transcription	NH-A	brain
2	chr1:94479200-94484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94479400-94484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:94479400-94484800	Weak transcription	Placenta	Placenta
5	chr1:94479400-94486000	Weak transcription	HSMM	muscle
6	chr1:94479600-94486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:94480000-94484800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:94480400-94484800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:94481000-94485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:94481000-94485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94481000-94485800	Weak transcription	NHLF	lung
13	chr1:94481000-94486000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:94481000-94486000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:94481200-94485800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94481400-94484200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:94481400-94486800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:94481600-94485000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:94481600-94485800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:94482200-94484200	Enhancers	Dnd41	blood
21	chr1:94483200-94486000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:94483200-94486000	Weak transcription	Fetal Lung	lung
23	chr1:94483200-94486000	Weak transcription	NHDF-Ad	bronchial
24	chr1:94483400-94484800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:94483400-94485600	Weak transcription	Osteobl	bone
26	chr1:94483400-94486200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:94483400-94486200	Weak transcription	HMEC	breast
28	chr1:94483400-94486400	Weak transcription	NHEK	skin
29	chr1:94483600-94486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:94483800-94492400	Weak transcription	Left Ventricle	heart

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