Variant report

Variant	rs2748154
Chromosome Location	chr6:38520436-38520437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13199048	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2748153	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2748155	1.00[EUR][1000 genomes]
rs2748158	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814886	1.00[EUR][1000 genomes]
rs7452084	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7773783	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9470896	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
2	chr6:38494800-38522600	Weak transcription	Ovary	ovary
3	chr6:38495000-38521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:38496600-38539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:38496800-38521600	Weak transcription	Lung	lung
6	chr6:38497000-38538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:38497000-38539400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:38500800-38520800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:38508200-38522200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:38510200-38522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:38510400-38522600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:38510600-38546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:38511600-38522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:38513000-38522400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:38513000-38539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:38514200-38539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:38515600-38535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:38516000-38538800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:38517800-38535000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:38518000-38522200	Weak transcription	HSMMtube	muscle
21	chr6:38518400-38520600	Enhancers	Primary B cells from cord blood	blood
22	chr6:38518600-38521200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:38518800-38521200	Weak transcription	Right Atrium	heart
24	chr6:38519000-38520800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:38519200-38538800	Weak transcription	Primary T cells from cord blood	blood
26	chr6:38519200-38539400	Weak transcription	Left Ventricle	heart
27	chr6:38519400-38520600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:38519600-38554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:38520200-38521800	Weak transcription	Fetal Heart	heart

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