Variant report

Variant	rs6862606
Chromosome Location	chr5:15573624-15573625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10065073	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10085170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10475067	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516651	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13185365	0.95[ASN][1000 genomes]
rs4144522	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6861983	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6889573	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7732619	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9312891	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9312892	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9312896	0.96[AMR][1000 genomes];0.95[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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15555800-15584200	Weak transcription	HSMM	muscle
2	chr5:15558800-15574800	Weak transcription	Fetal Stomach	stomach
3	chr5:15559200-15574800	Weak transcription	Aorta	Aorta
4	chr5:15564000-15574800	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:15567200-15580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:15570600-15575800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:15570600-15576200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:15571000-15577200	Weak transcription	Right Ventricle	heart
9	chr5:15571400-15581000	Enhancers	Fetal Heart	heart
10	chr5:15571800-15578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:15572000-15574800	Weak transcription	Ovary	ovary
12	chr5:15572000-15578000	Weak transcription	Psoas Muscle	Psoas
13	chr5:15572000-15583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:15572800-15574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:15572800-15575400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:15572800-15583200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:15573000-15574200	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:15573000-15574800	Enhancers	Brain Hippocampus Middle	brain
20	chr5:15573000-15576600	Enhancers	Colon Smooth Muscle	Colon
21	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:15573200-15573800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:15573200-15574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:15573200-15575000	Enhancers	Brain Anterior Caudate	brain
25	chr5:15573200-15583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:15573400-15574200	Enhancers	Brain Angular Gyrus	brain
27	chr5:15573400-15575200	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:15573400-15575400	Enhancers	Brain Substantia Nigra	brain
29	chr5:15573400-15577200	Weak transcription	Left Ventricle	heart
30	chr5:15573600-15573800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:15573600-15574000	Enhancers	Fetal Kidney	kidney
32	chr5:15573600-15574000	Flanking Active TSS	HUVEC	blood vessel
33	chr5:15573600-15575000	Enhancers	Fetal Lung	lung
34	chr5:15573600-15575200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:15573600-15575800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:15573600-15579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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