Variant report

Variant	rs1346415
Chromosome Location	chr3:42927740-42927741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42925984..42928803-chr3:42932233..42934720,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11129987	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11129988	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1346414	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1816227	0.81[EUR][1000 genomes]
rs2372270	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28378297	0.80[EUR][1000 genomes]
rs526511	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs542394	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs545023	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs551658	0.89[EUR][1000 genomes]
rs615462	0.87[EUR][1000 genomes]
rs619660	0.86[EUR][1000 genomes]
rs62248962	0.81[EUR][1000 genomes]
rs638602	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs649682	0.88[EUR][1000 genomes]
rs6767562	0.92[ASN][1000 genomes]
rs6769764	0.96[ASN][1000 genomes]
rs704895	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7617715	0.80[EUR][1000 genomes]
rs7641452	0.81[EUR][1000 genomes]
rs834183	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs834579	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs834584	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs834699	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9311330	0.80[EUR][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	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv965159	chr3:42927472-42932027	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42923000-42928000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:42923200-42928000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:42923200-42928000	Weak transcription	Stomach Mucosa	stomach
4	chr3:42923200-42928200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:42923200-42928600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:42923400-42927800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:42924000-42935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:42925800-42928200	Weak transcription	Placenta	Placenta
9	chr3:42926200-42927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:42926400-42931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:42926400-42933000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:42926600-42927800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:42926600-42928000	Weak transcription	HMEC	breast
14	chr3:42927200-42929400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:42927400-42928200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:42927400-42928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:42927400-42928600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:42927400-42929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:42927600-42928400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:42927600-42933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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