Variant report

Variant	rs7338314
Chromosome Location	chr13:39893788-39893789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12856032	0.82[EUR][1000 genomes]
rs1333439	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1924315	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025410	0.86[EUR][1000 genomes]
rs2147127	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2147130	0.82[JPT][hapmap]
rs2324258	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2985186	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4340188	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6563698	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs7318557	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7321424	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7335060	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746076	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs747383	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7986707	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7988864	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7990125	0.81[JPT][hapmap]
rs7995844	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9285131	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9315671	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9315675	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532371	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9532372	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548722	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548729	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548731	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9548733	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs957184	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs987848	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39886400-39896600	Weak transcription	Aorta	Aorta
2	chr13:39890600-39894400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:39891000-39899200	Weak transcription	Fetal Heart	heart
4	chr13:39891800-39894000	Weak transcription	Fetal Stomach	stomach
5	chr13:39891800-39895800	Weak transcription	Brain Angular Gyrus	brain
6	chr13:39891800-39895800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:39891800-39896200	Weak transcription	Brain Anterior Caudate	brain
8	chr13:39892000-39895200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:39892000-39895800	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:39892000-39895800	Weak transcription	Brain Substantia Nigra	brain
11	chr13:39892000-39896400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:39892000-39896400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:39892000-39896600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:39892000-39897200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:39892200-39896000	Weak transcription	Fetal Lung	lung
16	chr13:39892200-39896200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:39892200-39901200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:39892600-39895200	Weak transcription	Ovary	ovary
19	chr13:39893000-39898400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:39893400-39893800	Enhancers	Lung	lung
21	chr13:39893400-39894200	Enhancers	Right Ventricle	heart
22	chr13:39893400-39894200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr13:39893400-39894400	Enhancers	Left Ventricle	heart
24	chr13:39893400-39894600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:39893400-39894800	Enhancers	Right Atrium	heart
26	chr13:39893400-39897600	Enhancers	Adipose Nuclei	Adipose
27	chr13:39893600-39893800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:39893600-39893800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:39893600-39899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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