Variant report

Variant	rs72672660
Chromosome Location	chr1:57623937-57623938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17115240	0.85[EUR][1000 genomes]
rs66665045	0.85[EUR][1000 genomes]
rs72672662	0.85[EUR][1000 genomes]
rs72672663	0.84[EUR][1000 genomes]
rs72672669	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72672678	0.81[AMR][1000 genomes];0.85[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:22 , 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	chr1:57622000-57628000	Weak transcription	Pancreas	Pancrea
3	chr1:57622400-57624200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:57622400-57624400	Enhancers	Fetal Intestine Large	intestine
5	chr1:57622400-57624800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:57622600-57624600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:57622600-57624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:57622600-57624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:57622800-57624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57622800-57624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57622800-57624600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57623000-57624200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:57623200-57624400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:57623200-57624400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:57623200-57624800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:57623200-57635400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:57623400-57624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:57623400-57624000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:57623400-57624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:57623400-57626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:57623800-57624000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:57623800-57629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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