Variant report

Variant	rs17059793
Chromosome Location	chr13:39969667-39969668
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1010912	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1010913	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10467465	0.88[GIH][hapmap]
rs17229177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1752055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17803662	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182779	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59118983	0.94[ASN][1000 genomes]
rs59279878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60354480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629373	0.87[CHD][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73453087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73453091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73456912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73456919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73456925	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73456930	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73456942	0.94[ASN][1000 genomes]
rs9594331	0.87[CHD][hapmap];0.88[GIH][hapmap]
rs9603530	0.87[CHD][hapmap];0.88[GIH][hapmap]

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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
2	chr13:39966600-39970000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:39967600-39970400	Enhancers	Left Ventricle	heart
4	chr13:39968200-39973200	Enhancers	Right Ventricle	heart
5	chr13:39968400-39969800	Weak transcription	Spleen	Spleen
6	chr13:39968400-39970200	Enhancers	Fetal Heart	heart
7	chr13:39968400-39970400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:39968600-39970200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:39968600-39970400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:39968800-39970000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:39968800-39970000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:39968800-39970000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:39968800-39970000	Active TSS	Aorta	Aorta
14	chr13:39968800-39970200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:39968800-39970200	Enhancers	Brain Cingulate Gyrus	brain
16	chr13:39968800-39970400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:39968800-39970400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:39968800-39970400	Enhancers	Adipose Nuclei	Adipose
19	chr13:39968800-39970400	Enhancers	Brain Anterior Caudate	brain
20	chr13:39968800-39970400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr13:39968800-39972400	Enhancers	Fetal Lung	lung
22	chr13:39969000-39970000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:39969000-39970000	Enhancers	Brain Hippocampus Middle	brain
24	chr13:39969000-39970000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:39969000-39970000	Enhancers	Osteobl	bone
26	chr13:39969000-39970200	Enhancers	Fetal Brain Male	brain
27	chr13:39969000-39970400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:39969000-39970400	Enhancers	Fetal Muscle Trunk	muscle
29	chr13:39969000-39970400	Enhancers	Placenta	Placenta
30	chr13:39969200-39970000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr13:39969200-39970000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:39969200-39970000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:39969200-39970000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:39969200-39970600	Enhancers	Fetal Kidney	kidney
35	chr13:39969200-39972800	Enhancers	Fetal Muscle Leg	muscle
36	chr13:39969400-39970000	Enhancers	Fetal Brain Female	brain
37	chr13:39969400-39970000	Active TSS	Stomach Smooth Muscle	stomach
38	chr13:39969400-39973200	Enhancers	Right Atrium	heart
39	chr13:39969400-39975400	Weak transcription	Brain Substantia Nigra	brain
40	chr13:39969600-39969800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr13:39969600-39969800	Flanking Active TSS	Ovary	ovary
42	chr13:39969600-39970200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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