Variant report

Variant	rs6449481
Chromosome Location	chr5:59911179-59911180
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10054494	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1379112	0.82[EUR][1000 genomes]
rs7723165	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7729781	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9654364	0.94[AFR][1000 genomes];0.87[EUR][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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59891000-59911200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:59892000-59912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
6	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
7	chr5:59899400-59912600	Weak transcription	Fetal Thymus	thymus
8	chr5:59899400-59928000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:59899800-59924800	Weak transcription	HepG2	liver
10	chr5:59901800-59911400	Weak transcription	Placenta	Placenta
11	chr5:59902200-59924800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:59909200-59927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:59909400-59928800	Weak transcription	HMEC	breast
14	chr5:59910000-59921200	Weak transcription	Dnd41	blood
15	chr5:59910000-59925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:59910000-59925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:59910600-59911400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr5:59910800-59912000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:59910800-59912400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr5:59910800-59912400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr5:59911000-59911200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:59911000-59911200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:59911000-59911200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:59911000-59911400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr5:59911000-59911800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:59911000-59911800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:59911000-59911800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:59911000-59911800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr5:59911000-59911800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr5:59911000-59912200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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