Variant report

Variant	rs2930523
Chromosome Location	chr15:44249197-44249198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44244363..44246293-chr15:44248151..44250160,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11853395	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1561458	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16948098	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16949992	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2623015	0.88[EUR][1000 genomes]
rs28654093	0.97[EUR][1000 genomes]
rs28729677	0.86[EUR][1000 genomes]
rs2918952	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2929277	0.86[EUR][1000 genomes]
rs2929279	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929282	0.88[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930525	0.86[EUR][1000 genomes]
rs34497759	0.88[EUR][1000 genomes]
rs4270152	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4321171	0.97[EUR][1000 genomes]
rs481837	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs483800	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs492571	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs545119	0.94[EUR][1000 genomes]
rs56793082	0.90[EUR][1000 genomes]
rs59561000	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74009159	0.97[EUR][1000 genomes]
rs74009160	0.97[EUR][1000 genomes]
rs8035382	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8035402	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8035689	1.00[CEU][hapmap];0.97[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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr15:44227200-44251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:44242000-44250400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:44245200-44250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:44245400-44250400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:44246600-44250600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:44246800-44250600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:44247000-44250000	Weak transcription	NH-A	brain
8	chr15:44247000-44250600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:44247000-44250600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:44247000-44250600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:44247200-44250600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:44247400-44250800	Weak transcription	HSMM	muscle
13	chr15:44247400-44250800	Weak transcription	Osteobl	bone
14	chr15:44247600-44249800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:44247600-44249800	Weak transcription	Brain Anterior Caudate	brain
16	chr15:44247600-44249800	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:44247600-44249800	Weak transcription	NHLF	lung
18	chr15:44247600-44250000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:44247600-44250000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:44247600-44251000	Weak transcription	HMEC	breast
21	chr15:44247800-44250600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:44247800-44250600	Weak transcription	HSMMtube	muscle
23	chr15:44248200-44250600	Weak transcription	Brain Substantia Nigra	brain
24	chr15:44248400-44251200	Weak transcription	Fetal Heart	heart
25	chr15:44248800-44249200	Enhancers	Brain Angular Gyrus	brain
26	chr15:44249000-44250000	Weak transcription	NHDF-Ad	bronchial

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