Variant report

Variant	rs12660007
Chromosome Location	chr5:5220366-5220367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12658487	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181641	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186769	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2399736	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2399737	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2913616	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2913618	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2913619	0.80[EUR][1000 genomes]
rs2913620	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2913623	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2913624	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2964439	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2964441	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2964444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34819663	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67447053	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5199000-5240000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:5199800-5228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:5201400-5223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:5201400-5226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:5202600-5240200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:5205400-5222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:5209600-5221000	Weak transcription	Ovary	ovary
10	chr5:5209600-5222000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:5210000-5220800	Weak transcription	NH-A	brain
12	chr5:5218200-5220600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:5218400-5220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:5218400-5221200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:5218400-5222600	Weak transcription	Fetal Kidney	kidney
16	chr5:5219000-5221400	Enhancers	Fetal Brain Male	brain
17	chr5:5219200-5220400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:5219200-5220600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:5219200-5220600	Weak transcription	Psoas Muscle	Psoas
20	chr5:5219200-5221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:5219600-5220800	Enhancers	Fetal Brain Female	brain

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