Variant report

Variant	rs2052515
Chromosome Location	chr5:74571914-74571915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10051260	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056811	0.90[ASN][1000 genomes]
rs10062361	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10474433	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs13356603	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3857387	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59014134	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72633961	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633962	0.90[ASN][1000 genomes]
rs7730609	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74568400-74579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74569200-74573200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:74570400-74576200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:74570600-74572000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:74570600-74573600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74570800-74572800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:74570800-74572800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:74570800-74573600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:74571000-74572800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:74571000-74572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:74571000-74573200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:74571000-74573600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:74571200-74572600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:74571200-74572800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:74571600-74572000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:74571600-74572000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:74571800-74572000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:74571800-74572000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:74571800-74572000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:74571800-74572000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:74571800-74572000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:74571800-74572000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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