Variant report

Variant	rs72751008
Chromosome Location	chr15:57304832-57304833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12595074	0.84[AMR][1000 genomes]
rs2439917	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2470085	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2951905	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2951907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2962988	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3087567	0.85[AMR][1000 genomes]
rs55910715	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72731943	1.00[AFR][1000 genomes]
rs72751006	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751027	1.00[AFR][1000 genomes]
rs8037322	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57273000-57307200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:57275400-57306200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:57276200-57313400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:57277000-57313400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:57282000-57307400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:57282000-57315000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:57282200-57308400	Weak transcription	Thymus	Thymus
8	chr15:57282200-57311000	Weak transcription	K562	blood
9	chr15:57282200-57315200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:57282600-57306200	Weak transcription	HepG2	liver
11	chr15:57284200-57310800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:57286000-57306200	Weak transcription	Fetal Intestine Large	intestine
13	chr15:57286000-57307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:57286200-57307600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:57286200-57307600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:57286200-57312000	Weak transcription	HSMM	muscle
17	chr15:57286200-57314800	Weak transcription	Dnd41	blood
18	chr15:57286400-57309400	Weak transcription	Fetal Lung	lung
19	chr15:57288800-57307400	Weak transcription	HMEC	breast
20	chr15:57289400-57308000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:57289600-57315200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:57289600-57315600	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:57289800-57315600	Weak transcription	Primary B cells from cord blood	blood
24	chr15:57294200-57307400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:57294400-57311600	Weak transcription	GM12878-XiMat	blood
26	chr15:57295200-57313600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:57296000-57307600	Weak transcription	Brain Substantia Nigra	brain
28	chr15:57296000-57308800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:57296000-57308800	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:57296200-57307400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:57296200-57307600	Weak transcription	A549	lung
32	chr15:57296200-57308000	Weak transcription	NH-A	brain
33	chr15:57296400-57309400	Weak transcription	NHDF-Ad	bronchial
34	chr15:57296400-57310200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:57296600-57313200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:57297200-57308000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:57297200-57316800	Weak transcription	Fetal Stomach	stomach
38	chr15:57297800-57307200	Weak transcription	Pancreas	Pancrea
39	chr15:57298200-57307600	Weak transcription	Gastric	stomach
40	chr15:57299000-57307600	Weak transcription	Ovary	ovary
41	chr15:57299200-57316000	Weak transcription	Right Ventricle	heart
42	chr15:57299200-57317200	Weak transcription	Esophagus	oesophagus
43	chr15:57300000-57308200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:57300200-57308000	Weak transcription	Primary T cells from cord blood	blood
45	chr15:57300200-57313800	Strong transcription	Fetal Thymus	thymus
46	chr15:57300400-57307400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:57300400-57308800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:57301600-57307800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:57302200-57306200	Weak transcription	Small Intestine	intestine
50	chr15:57303000-57305000	Enhancers	Hela-S3	cervix

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