Variant report

Variant	rs9548759
Chromosome Location	chr13:39994702-39994703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1323937	0.86[YRI][hapmap]
rs1323938	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2761943	0.85[YRI][hapmap]
rs499031	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528623	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs581783	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs646633	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7329152	0.81[AFR][1000 genomes]
rs7335423	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7985373	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:39991400-39997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:39992000-39995000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
5	chr13:39992200-39997600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:39992400-39995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:39992400-39995600	Weak transcription	NHDF-Ad	bronchial
8	chr13:39992400-39997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:39992800-39996000	Weak transcription	HUVEC	blood vessel
10	chr13:39993000-39995000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:39993200-39994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:39993400-39997600	Weak transcription	Ovary	ovary
13	chr13:39993600-39995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:39994200-39994800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:39994400-39994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:39994400-39994800	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:39994400-39997600	Weak transcription	Left Ventricle	heart
18	chr13:39994600-39996800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:39994600-39997200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:39994600-39997600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:39994600-39997600	Weak transcription	Fetal Heart	heart

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