Variant report

Variant	rs2596182
Chromosome Location	chr15:33650543-33650544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1913424	1.00[YRI][hapmap]
rs2596183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670955	1.00[YRI][hapmap]
rs4780110	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7176762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7183038	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533346	chr15:33469439-33809641	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv832963	chr15:33514798-33712442	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832964	chr15:33608771-33784018	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv568919	chr15:33638335-33736683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2596182	FAM189A1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33644600-33701600	Weak transcription	Aorta	Aorta
2	chr15:33649200-33650600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:33649200-33651200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:33649600-33651600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:33649800-33650800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:33649800-33651200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:33650000-33650600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:33650000-33650600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:33650000-33650800	Enhancers	NHEK	skin
10	chr15:33650000-33651200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:33650000-33651200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:33650000-33651200	Enhancers	Brain Germinal Matrix	brain
13	chr15:33650000-33651200	Enhancers	Fetal Muscle Leg	muscle
14	chr15:33650000-33651400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:33650000-33651400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:33650000-33651400	Enhancers	HMEC	breast
17	chr15:33650000-33651400	Enhancers	HSMM	muscle
18	chr15:33650200-33650600	Enhancers	Brain Anterior Caudate	brain
19	chr15:33650200-33650600	Flanking Active TSS	HSMMtube	muscle
20	chr15:33650200-33650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:33650200-33650800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:33650200-33650800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:33650200-33650800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr15:33650200-33651400	Enhancers	Brain Substantia Nigra	brain
25	chr15:33650400-33650600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:33650400-33651200	Enhancers	Muscle Satellite Cultured Cells	--

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