Variant report

Variant	rs62018215
Chromosome Location	chr15:51386502-51386503
allele	C/T
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

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

No.	Distal block	Cell Line	Cell type
1	chr15:51374735..51377659-chr15:51385754..51389535,3	MCF-7	breast:
2	chr15:51385109..51388329-chr15:51394430..51396679,3	MCF-7	breast:
3	chr15:51377919..51380652-chr15:51384491..51387589,4	MCF-7	breast:
4	chr15:51384467..51387143-chr15:51389219..51391911,2	MCF-7	breast:
5	chr15:51378412..51381231-chr15:51384071..51387413,3	MCF-7	breast:
6	chr15:51329958..51333003-chr15:51384455..51387756,5	MCF-7	breast:
7	chr15:51385170..51388153-chr15:51390424..51392777,2	K562	blood:
8	chr15:51199017..51202160-chr15:51384905..51388253,3	MCF-7	breast:
9	chr15:51385731..51387801-chr15:51406317..51408317,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10152338	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635474	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380277	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963982	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963985	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521440	1.00[ASN][1000 genomes]
rs17600375	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600549	1.00[ASN][1000 genomes]
rs17600569	1.00[ASN][1000 genomes]
rs28552599	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570932	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57603576	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449611	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018161	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018162	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018164	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018166	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018184	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018216	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62018217	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62018226	1.00[ASN][1000 genomes]
rs62020176	1.00[ASN][1000 genomes]
rs62020177	1.00[ASN][1000 genomes]
rs62020178	1.00[ASN][1000 genomes]
rs9944192	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv428634	chr15:51299632-51446666	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62018215	SPPL2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51385000-51387600	Active TSS	Rectal Smooth Muscle	rectum
2	chr15:51385000-51388000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:51385000-51388000	Active TSS	Aorta	Aorta
4	chr15:51385200-51387600	Active TSS	Brain Cingulate Gyrus	brain
5	chr15:51385400-51387600	Active TSS	HSMM	muscle
6	chr15:51385400-51387800	Active TSS	Brain Hippocampus Middle	brain
7	chr15:51385600-51386600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr15:51385600-51386800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:51385600-51386800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr15:51385600-51387200	Active TSS	Colon Smooth Muscle	Colon
11	chr15:51385600-51387400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:51385600-51387400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:51385600-51387600	Active TSS	Brain Angular Gyrus	brain
14	chr15:51385600-51387600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr15:51385600-51387600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:51385600-51387800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr15:51385600-51388000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:51385600-51388400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:51385800-51386600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr15:51385800-51386600	Flanking Active TSS	Pancreas	Pancrea
21	chr15:51385800-51386800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr15:51385800-51386800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr15:51385800-51386800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr15:51385800-51386800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr15:51385800-51387200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr15:51385800-51387400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:51385800-51387400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
28	chr15:51385800-51387400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr15:51385800-51387600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr15:51385800-51387600	Active TSS	Brain Substantia Nigra	brain
31	chr15:51385800-51387600	Active TSS	Left Ventricle	heart
32	chr15:51385800-51387600	Bivalent/Poised TSS	Thymus	Thymus
33	chr15:51385800-51387800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr15:51385800-51387800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:51385800-51387800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:51385800-51387800	Bivalent/Poised TSS	Small Intestine	intestine
37	chr15:51385800-51387800	Bivalent/Poised TSS	NHLF	lung
38	chr15:51385800-51388000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr15:51385800-51388000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr15:51385800-51388000	Active TSS	Brain Anterior Caudate	brain
41	chr15:51385800-51388000	Active TSS	Right Atrium	heart
42	chr15:51385800-51388200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:51386000-51386600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr15:51386000-51386600	Flanking Active TSS	Liver	Liver
45	chr15:51386000-51386800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:51386000-51386800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:51386000-51386800	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:51386000-51386800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:51386000-51386800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:51386000-51386800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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