Variant report

Variant	rs1395817
Chromosome Location	chr4:148118723-148118724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10014781	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1948969	0.82[CHB][hapmap]
rs2221601	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2562857	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2714894	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2714895	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2714899	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2953289	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4339188	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835385	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56666042	0.89[ASN][1000 genomes]
rs58585596	0.94[ASN][1000 genomes]
rs58665736	0.81[ASN][1000 genomes]
rs6822622	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73853376	0.88[ASN][1000 genomes]
rs73853384	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73853385	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7656015	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952688	0.87[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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	esv3350493	chr4:148118329-148118849	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148115800-148119400	Weak transcription	Fetal Heart	heart
2	chr4:148116200-148119600	Weak transcription	Fetal Stomach	stomach
3	chr4:148116200-148120800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:148116600-148119000	Weak transcription	NHLF	lung
5	chr4:148116600-148119600	Weak transcription	HSMMtube	muscle
6	chr4:148116600-148119800	Weak transcription	Fetal Kidney	kidney
7	chr4:148116800-148118800	Weak transcription	NHDF-Ad	bronchial
8	chr4:148116800-148119600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:148117000-148119000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:148117000-148119200	Weak transcription	HSMM	muscle
11	chr4:148117000-148119800	Weak transcription	NH-A	brain
12	chr4:148117800-148121800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:148118000-148119000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:148118000-148119000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:148118000-148119000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:148118000-148119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:148118000-148119000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:148118000-148119400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:148118000-148120400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:148118200-148118800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:148118200-148119000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:148118200-148119200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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