Variant report

Variant	rs66525444
Chromosome Location	chr5:167220343-167220344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10064302	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064701	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072896	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454966	1.00[ASN][1000 genomes]
rs11948139	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357813	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357822	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13358649	0.82[EUR][1000 genomes]
rs13436693	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069188	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862875	1.00[ASN][1000 genomes]
rs2337001	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725756	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4242225	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869077	1.00[ASN][1000 genomes]
rs55855842	0.82[EUR][1000 genomes]
rs57989047	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851511	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830099	1.00[ASN][1000 genomes]
rs7448951	1.00[ASN][1000 genomes]
rs9313387	1.00[ASN][1000 genomes]
rs9313388	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167217600-167221200	Weak transcription	Brain Anterior Caudate	brain
3	chr5:167218000-167229600	Weak transcription	HSMM	muscle
4	chr5:167218200-167221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:167218600-167220800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167218800-167220600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:167218800-167221800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:167219000-167220400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:167219000-167220400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:167219000-167220400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:167219000-167220400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:167219000-167223200	Weak transcription	Osteobl	bone
14	chr5:167219600-167220600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:167219600-167225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:167219600-167225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167219800-167220600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:167219800-167221200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:167219800-167221800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:167219800-167229600	Weak transcription	NH-A	brain
21	chr5:167220000-167220400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:167220000-167222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:167220200-167220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:167220200-167221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:167220200-167221600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:167220200-167224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:167220200-167225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:167220200-167229600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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