Variant report

Variant	rs72672663
Chromosome Location	chr1:57628145-57628146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10465836	0.89[EUR][1000 genomes]
rs17115233	0.89[EUR][1000 genomes]
rs17115240	0.98[EUR][1000 genomes]
rs4124453	0.89[EUR][1000 genomes]
rs66474646	0.89[EUR][1000 genomes]
rs66665045	0.98[EUR][1000 genomes]
rs72672660	0.84[EUR][1000 genomes]
rs72672662	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72672669	0.98[EUR][1000 genomes]
rs72672676	0.89[EUR][1000 genomes]
rs72672678	0.98[EUR][1000 genomes]
rs7533282	0.89[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57623200-57635400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57623800-57629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:57624000-57644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57624200-57628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:57624200-57628800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:57624400-57628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:57624400-57629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:57624600-57628400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57626000-57628200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:57626000-57628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:57626400-57629000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:57626400-57629000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:57627000-57628600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:57627000-57629400	Enhancers	Fetal Brain Male	brain
15	chr1:57627000-57629800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:57627200-57628600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:57627600-57629600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:57627600-57629600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:57627600-57629600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:57627800-57628200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:57627800-57628200	Weak transcription	Fetal Brain Female	brain
22	chr1:57627800-57629200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:57627800-57629200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:57627800-57629200	Enhancers	Brain Angular Gyrus	brain
25	chr1:57627800-57629200	Enhancers	Brain Germinal Matrix	brain
26	chr1:57627800-57629200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:57627800-57629400	Enhancers	Brain Substantia Nigra	brain
28	chr1:57627800-57629600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:57627800-57629600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:57628000-57628200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:57628000-57629200	Enhancers	Pancreas	Pancrea
32	chr1:57628000-57629800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:57628000-57629800	Enhancers	Brain Anterior Caudate	brain
34	chr1:57628000-57632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:57628000-57632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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