Variant report

Variant	rs12439033
Chromosome Location	chr15:56444770-56444771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10444835	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071244	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071248	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071251	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071256	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438262	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438452	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438525	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438606	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438670	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439133	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440495	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440509	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440898	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441580	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443028	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443486	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976721	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976722	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976737	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976776	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976787	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976793	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976808	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16976820	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976824	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718927	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28895323	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310793	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56798454	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180561	0.90[EUR][1000 genomes]
rs7181011	0.90[EUR][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	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr15:56424800-56453800	Weak transcription	Brain Substantia Nigra	brain
2	chr15:56433800-56464000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:56435200-56458800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:56435400-56446800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:56435400-56447200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:56435400-56461000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:56435400-56462400	Weak transcription	Fetal Thymus	thymus
8	chr15:56435400-56465200	Weak transcription	Thymus	Thymus
9	chr15:56435800-56454000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:56436000-56448600	Weak transcription	K562	blood
11	chr15:56436000-56458000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:56436400-56455800	Weak transcription	Liver	Liver
13	chr15:56436600-56458800	Weak transcription	Primary B cells from cord blood	blood
14	chr15:56440800-56445400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:56441000-56453200	Weak transcription	A549	lung
16	chr15:56441000-56461400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:56441400-56445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:56442000-56457200	Weak transcription	HMEC	breast
19	chr15:56442000-56458000	Weak transcription	HepG2	liver
20	chr15:56442000-56462600	Weak transcription	HSMM	muscle
21	chr15:56442200-56451000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:56442200-56457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:56442600-56470600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:56442800-56450800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:56442800-56454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:56442800-56462600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:56443000-56445200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:56443000-56446000	Weak transcription	Primary T cells from cord blood	blood
29	chr15:56443200-56452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:56443200-56462600	Weak transcription	Duodenum Mucosa	Duodenum

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