Variant report

Variant	rs13393356
Chromosome Location	chr2:72588186-72588187
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10084347	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs10165868	0.81[AFR][1000 genomes]
rs10176180	1.00[AMR][1000 genomes]
rs10188321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188854	1.00[AMR][1000 genomes]
rs10191381	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs10205704	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206245	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs11126366	0.93[YRI][hapmap]
rs13393677	0.80[AFR][1000 genomes]
rs13394873	0.86[YRI][hapmap]
rs13397728	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415635	0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs28860196	0.85[AFR][1000 genomes]
rs6715775	0.83[AFR][1000 genomes]
rs6729155	0.84[AFR][1000 genomes]
rs6749568	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs7564660	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9653555	0.80[AFR][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
2	chr2:72553800-72594600	Weak transcription	Aorta	Aorta
3	chr2:72559200-72607400	Weak transcription	Liver	Liver
4	chr2:72560600-72594800	Weak transcription	Pancreas	Pancrea
5	chr2:72572200-72601400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
7	chr2:72573600-72595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:72574200-72594800	Weak transcription	Placenta	Placenta
9	chr2:72575200-72588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:72576600-72594800	Weak transcription	Right Ventricle	heart
11	chr2:72576600-72605200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:72578000-72606400	Weak transcription	HSMM	muscle
13	chr2:72578800-72589000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:72578800-72594600	Weak transcription	HMEC	breast
15	chr2:72579000-72598400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:72579200-72588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:72579200-72594600	Weak transcription	NHEK	skin
18	chr2:72579200-72601800	Weak transcription	Spleen	Spleen
19	chr2:72579400-72594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:72579400-72600400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:72579600-72594800	Weak transcription	Left Ventricle	heart
22	chr2:72580200-72605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:72581600-72607800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:72582000-72589800	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:72582600-72605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:72585000-72599600	Weak transcription	Ovary	ovary
27	chr2:72585600-72594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:72587200-72588800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:72587600-72594800	Weak transcription	Fetal Stomach	stomach

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