Variant report

Variant	rs7723274
Chromosome Location	chr5:125055976-125055977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11950923	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11955142	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11955150	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1490976	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1490981	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17153120	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17153142	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17153195	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17153198	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2101603	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28684625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34407148	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35380838	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35762924	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385960	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385965	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62385966	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62385967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66490821	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6865600	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6883544	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7707067	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902593	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs989983	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv534468	chr5:124943170-125634960	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv521940	chr5:125049170-125092500	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2758014	chr5:125050863-125287909	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759376	chr5:125050863-125287909	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125050000-125056600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:125051000-125057200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:125053800-125056600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:125054800-125056000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:125055000-125056400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:125055000-125057400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:125055200-125056000	Enhancers	Fetal Kidney	kidney
8	chr5:125055200-125056000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:125055200-125056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:125055200-125056200	Flanking Active TSS	HepG2	liver
11	chr5:125055400-125056000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:125055400-125056000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:125055400-125056000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:125055400-125056000	Enhancers	Brain Substantia Nigra	brain
15	chr5:125055400-125056000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:125055400-125056200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:125055400-125056200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:125055400-125056200	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:125055400-125056200	Enhancers	Fetal Brain Female	brain
20	chr5:125055600-125056000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:125055600-125056000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:125055600-125056000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:125055600-125056000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:125055600-125056000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:125055600-125056000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:125055600-125056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:125055600-125056000	Enhancers	Fetal Heart	heart
28	chr5:125055600-125056000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:125055600-125056000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:125055600-125056000	Enhancers	NH-A	brain
31	chr5:125055600-125056200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:125055600-125056200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:125055600-125056200	Enhancers	Fetal Brain Male	brain
34	chr5:125055800-125056000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:125055800-125056000	Active TSS	Brain Anterior Caudate	brain
36	chr5:125055800-125056000	Active TSS	Brain Hippocampus Middle	brain
37	chr5:125055800-125056600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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