Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10789044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073675	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12120310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123599	0.91[AMR][1000 genomes]
rs1413226	0.88[AMR][1000 genomes]
rs1504588	0.91[AMR][1000 genomes]
rs1504589	0.84[AMR][1000 genomes]
rs17482565	0.88[AMR][1000 genomes]
rs17541356	0.90[AMR][1000 genomes]
rs17541479	0.91[AMR][1000 genomes]
rs4912429	0.84[AMR][1000 genomes]
rs4912430	0.84[AMR][1000 genomes]
rs4912431	0.84[AMR][1000 genomes]
rs4912432	0.84[AMR][1000 genomes]
rs55944821	0.84[AMR][1000 genomes]
rs6670988	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs6680219	0.84[AMR][1000 genomes]
rs7552759	0.84[AMR][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	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	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
3	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57621400-57627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57621600-57623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:57622000-57623200	Enhancers	Fetal Intestine Small	intestine
4	chr1:57622000-57628000	Weak transcription	Pancreas	Pancrea
5	chr1:57622400-57624200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:57622400-57624400	Enhancers	Fetal Intestine Large	intestine
7	chr1:57622400-57624800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:57622600-57624600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:57622600-57624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:57622600-57624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:57622800-57623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:57622800-57624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:57622800-57624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57622800-57624600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:57623000-57623800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:57623000-57624200	Enhancers	HUES6 Cell Line	embryonic stem cell

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