Variant report

Variant	rs66665045
Chromosome Location	chr1:57630604-57630605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10465836	0.91[EUR][1000 genomes]
rs17115233	0.91[EUR][1000 genomes]
rs17115240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4124453	0.91[EUR][1000 genomes]
rs636943	0.81[EUR][1000 genomes]
rs66474646	0.91[EUR][1000 genomes]
rs72672660	0.85[EUR][1000 genomes]
rs72672662	1.00[EUR][1000 genomes]
rs72672663	0.98[EUR][1000 genomes]
rs72672669	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72672676	0.91[EUR][1000 genomes]
rs72672678	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533282	0.91[EUR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57623200-57635400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57624000-57644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57628000-57632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:57628000-57632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:57628200-57631400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:57629000-57631200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57629000-57632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:57629200-57633200	Weak transcription	Pancreas	Pancrea
9	chr1:57629400-57631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:57629400-57631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:57629600-57631000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:57629600-57631200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:57629800-57631400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:57630000-57631400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:57630200-57632000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:57630400-57631800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:57630600-57630800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:57630600-57632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:57630600-57632200	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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