Variant report

Variant	rs6861983
Chromosome Location	chr5:15573558-15573559
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];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10085170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10475067	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12516651	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13185365	0.93[ASN][1000 genomes]
rs4144522	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6862606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879834	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6889573	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7732619	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9312891	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9312892	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9312896	0.96[AMR][1000 genomes];0.94[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:34 , 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	chr5:15560800-15573600	Weak transcription	Fetal Kidney	kidney
5	chr5:15562400-15573600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:15564000-15574800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:15567200-15580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:15570600-15575800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:15570600-15576200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:15570800-15573600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:15571000-15577200	Weak transcription	Right Ventricle	heart
12	chr5:15571400-15581000	Enhancers	Fetal Heart	heart
13	chr5:15571800-15578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:15572000-15574800	Weak transcription	Ovary	ovary
15	chr5:15572000-15578000	Weak transcription	Psoas Muscle	Psoas
16	chr5:15572000-15583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:15572800-15574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:15572800-15575400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:15572800-15583200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:15573000-15573600	Enhancers	HUVEC	blood vessel
22	chr5:15573000-15574200	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:15573000-15574800	Enhancers	Brain Hippocampus Middle	brain
24	chr5:15573000-15576600	Enhancers	Colon Smooth Muscle	Colon
25	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:15573200-15573800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:15573200-15574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:15573200-15575000	Enhancers	Brain Anterior Caudate	brain
29	chr5:15573200-15583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:15573400-15573600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:15573400-15574200	Enhancers	Brain Angular Gyrus	brain
32	chr5:15573400-15575200	Enhancers	Stomach Smooth Muscle	stomach
33	chr5:15573400-15575400	Enhancers	Brain Substantia Nigra	brain
34	chr5:15573400-15577200	Weak transcription	Left Ventricle	heart

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