Variant report

Variant	rs60464538
Chromosome Location	chr15:40812146-40812147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40803911..40804534-chr15:40811594..40812575,2	K562	blood:
2	chr15:40628661..40629604-chr15:40811567..40812516,2	K562	blood:
3	chr15:40811763..40813776-chr15:40823296..40825931,2	K562	blood:
4	chr15:40732916..40733625-chr15:40811655..40812334,2	MCF-7	breast:
5	chr15:40811628..40812316-chr15:40881605..40882215,2	MCF-7	breast:
6	chr15:40811878..40812679-chr15:41195874..41196838,2	K562	blood:
7	chr15:40811570..40813776-chr15:40823296..40826811,3	K562	blood:

Variant related genes	Relation type
ENSG00000140320	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10152395	1.00[AMR][1000 genomes]
rs16970758	0.85[AFR][1000 genomes]
rs2053974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35722406	1.00[AMR][1000 genomes]
rs57374749	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57812947	0.91[AFR][1000 genomes]
rs60217610	1.00[AMR][1000 genomes]
rs74011165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011170	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011171	0.85[AFR][1000 genomes]
rs74011179	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011181	1.00[AMR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40804400-40812200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:40804400-40812200	Weak transcription	Pancreas	Pancrea
3	chr15:40804400-40821000	Weak transcription	Right Atrium	heart
4	chr15:40805000-40812200	Weak transcription	HMEC	breast
5	chr15:40805200-40812200	Weak transcription	Fetal Stomach	stomach
6	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
7	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:40806200-40812200	Weak transcription	K562	blood
9	chr15:40812000-40812200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:40812000-40812200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40812000-40812200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:40812000-40812200	Enhancers	Adipose Nuclei	Adipose
13	chr15:40812000-40812200	Enhancers	Brain Hippocampus Middle	brain
14	chr15:40812000-40812200	Weak transcription	Esophagus	oesophagus
15	chr15:40812000-40812200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr15:40812000-40812200	Active TSS	Stomach Smooth Muscle	stomach
17	chr15:40812000-40812200	Active TSS	NHLF	lung
18	chr15:40812000-40812200	Active TSS	Osteobl	bone
19	chr15:40812000-40812400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:40812000-40812400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:40812000-40812400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:40812000-40812400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:40812000-40812400	Enhancers	Fetal Muscle Trunk	muscle
24	chr15:40812000-40812600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:40812000-40812600	Enhancers	Dnd41	blood
26	chr15:40812000-40812600	Enhancers	Monocytes-CD14+_RO01746	blood

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