Variant report

Variant	rs875804
Chromosome Location	chr15:52385179-52385180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:52385126-52386736	HUVEC	blood vessel:	n/a	chr15:52385912-52385920
2	TCF12	chr15:52385044-52387001	SK-N-SH	brain:	n/a	chr15:52386512-52386520

No.	Distal block	Cell Line	Cell type
1	chr15:52381490..52382992-chr15:52383645..52386424,2	K562	blood:
2	chr15:52369845..52371701-chr15:52385019..52386714,2	MCF-7	breast:
3	chr15:52377947..52381389-chr15:52382632..52385327,3	MCF-7	breast:
4	chr1:17231644..17232501-chr15:52384830..52385330,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000242327	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12439307	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16964728	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16964729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17612326	0.86[AMR][1000 genomes]
rs60289856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73400750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73400751	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73400758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73400779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9672817	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52384600-52385400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:52384600-52385400	Enhancers	Adipose Nuclei	Adipose
3	chr15:52384600-52385400	Enhancers	Hela-S3	cervix
4	chr15:52384600-52387600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:52384800-52385200	Enhancers	HUVEC	blood vessel
6	chr15:52384800-52385400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr15:52384800-52385400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:52384800-52385400	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:52384800-52385400	Enhancers	HSMM	muscle
10	chr15:52384800-52385400	Enhancers	NHEK	skin
11	chr15:52384800-52385800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:52384800-52386000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:52384800-52386600	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:52384800-52387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:52384800-52388200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:52385000-52385200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:52385000-52385400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:52385000-52385400	Enhancers	Osteobl	bone
19	chr15:52385000-52385600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:52385000-52385600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:52385000-52386600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:52385000-52386800	Enhancers	Placenta	Placenta
23	chr15:52385000-52387600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:52385000-52387800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:52385000-52387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:52385000-52387800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:52385000-52387800	Enhancers	NHLF	lung
28	chr15:52385000-52388400	Enhancers	HMEC	breast

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