Variant report

Variant	rs12595327
Chromosome Location	chr15:75443088-75443089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75434234..75436652-chr15:75441017..75443733,2	K562	blood:
2	chr15:75441576..75444367-chr15:75445715..75448698,2	K562	blood:
3	chr15:75442772..75443573-chr3:52864231..52864791,2	Hela-S3	cervix:
4	chr15:75316439..75318954-chr15:75442453..75445329,2	K562	blood:
5	chr15:75440695..75447245-chr15:75492805..75496623,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction
ENSG00000055955	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11072527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439655	0.89[EUR][1000 genomes]
rs12441216	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441881	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1602361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4886665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59916619	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75435600-75443800	Weak transcription	Fetal Heart	heart
2	chr15:75438400-75445400	Weak transcription	Adipose Nuclei	Adipose
3	chr15:75438600-75443800	Weak transcription	Spleen	Spleen
4	chr15:75438600-75444200	Weak transcription	HepG2	liver
5	chr15:75438600-75448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:75441400-75444000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:75441800-75444000	Enhancers	HMEC	breast
8	chr15:75442000-75443200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:75442000-75443200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr15:75442000-75443200	Enhancers	NHEK	skin
11	chr15:75442000-75443800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr15:75442000-75444000	Enhancers	HSMM	muscle
13	chr15:75442000-75444000	Enhancers	NHDF-Ad	bronchial
14	chr15:75442000-75445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:75442000-75445800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr15:75442200-75443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:75442200-75446000	Enhancers	K562	blood
18	chr15:75442400-75443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:75442400-75443200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:75442400-75445600	Enhancers	GM12878-XiMat	blood
21	chr15:75442800-75443200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:75442800-75443200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:75442800-75445000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:75442800-75445400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:75443000-75443600	Weak transcription	HSMMtube	muscle
26	chr15:75443000-75443800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:75443000-75443800	Weak transcription	Osteobl	bone
28	chr15:75443000-75444600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:75443000-75445600	Weak transcription	A549	lung
30	chr15:75443000-75445800	Enhancers	Hela-S3	cervix

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