Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11811443	0.97[EUR][1000 genomes]
rs1342432	0.96[EUR][1000 genomes]
rs17114796	0.93[EUR][1000 genomes]
rs17416642	0.96[EUR][1000 genomes]
rs17416655	0.96[EUR][1000 genomes]
rs17417626	0.96[EUR][1000 genomes]
rs17449278	0.93[EUR][1000 genomes]
rs17450593	0.96[EUR][1000 genomes]
rs17450764	0.96[EUR][1000 genomes]
rs17451933	0.96[EUR][1000 genomes]
rs41286862	0.96[EUR][1000 genomes]
rs57172704	0.96[EUR][1000 genomes]
rs57655464	0.96[EUR][1000 genomes]
rs6698886	0.96[EUR][1000 genomes]
rs6701615	0.96[EUR][1000 genomes]
rs706354	0.96[EUR][1000 genomes]
rs706355	0.96[EUR][1000 genomes]
rs706359	0.96[EUR][1000 genomes]
rs74077326	0.96[EUR][1000 genomes]
rs7514916	0.96[EUR][1000 genomes]
rs835446	0.96[EUR][1000 genomes]
rs835902	0.96[EUR][1000 genomes]
rs9651187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57500800-57526000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57501200-57526200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57512600-57525400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57512800-57532400	Weak transcription	Fetal Brain Female	brain
6	chr1:57513400-57514400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:57513800-57515600	Enhancers	Fetal Brain Male	brain
8	chr1:57513800-57516000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:57514000-57514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:57514200-57514800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:57514200-57514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:57514200-57514800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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