Variant report

Variant	rs2414125
Chromosome Location	chr15:52286017-52286018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52285958..52288658-chr15:52296480..52298435,2	K562	blood:
2	chr15:52280644..52283145-chr15:52284206..52286651,2	MCF-7	breast:
3	chr15:52262263..52265675-chr15:52285605..52288830,5	MCF-7	breast:
4	chr15:52281191..52288853-chr15:52309308..52312882,12	MCF-7	breast:
5	chr15:52283952..52287238-chr15:52310282..52312766,5	K562	blood:
6	chr15:52283884..52286348-chr15:52313053..52314666,2	K562	blood:
7	chr15:52284787..52288645-chr15:52310639..52314177,5	K562	blood:
8	chr15:52277079..52289117-chr15:52304221..52314916,38	MCF-7	breast:
9	chr15:52261501..52265817-chr15:52284354..52288091,7	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2414124	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2470598	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2921952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2921955	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7167709	1.00[YRI][hapmap]

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	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52274800-52287200	Weak transcription	HSMMtube	muscle
2	chr15:52285000-52287400	Enhancers	NHEK	skin
3	chr15:52285000-52288600	Enhancers	HMEC	breast
4	chr15:52285000-52289000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:52285200-52288600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:52285400-52287000	Weak transcription	Stomach Mucosa	stomach
7	chr15:52285400-52287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:52285600-52286800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:52285600-52286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:52285600-52287400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:52285800-52286800	Weak transcription	Hela-S3	cervix
12	chr15:52285800-52287200	Weak transcription	HepG2	liver
13	chr15:52286000-52286400	Weak transcription	A549	lung
14	chr15:52286000-52287000	Weak transcription	HSMM	muscle
15	chr15:52286000-52287000	Weak transcription	HUVEC	blood vessel
16	chr15:52286000-52287200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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