Variant report

Variant	rs73399346
Chromosome Location	chr12:106131594-106131595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11837264	1.00[EUR][1000 genomes]
rs2374530	1.00[EUR][1000 genomes]
rs58931652	0.83[AFR][1000 genomes]
rs58941654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59436303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60658497	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397341	0.84[AFR][1000 genomes]
rs73399335	1.00[AFR][1000 genomes]
rs73399339	1.00[AFR][1000 genomes]
rs73399342	1.00[AFR][1000 genomes]
rs73399349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7969557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106126600-106133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:106127200-106132400	Weak transcription	Lung	lung
3	chr12:106127400-106132000	Weak transcription	HSMMtube	muscle
4	chr12:106127400-106134600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:106127600-106132400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:106128600-106132000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:106129400-106132200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:106129400-106133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:106129400-106134200	Weak transcription	HSMM	muscle
10	chr12:106130000-106137800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:106130600-106131800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:106130600-106132000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:106130600-106132000	Weak transcription	Fetal Stomach	stomach
14	chr12:106130600-106133000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:106130800-106133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:106130800-106133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:106130800-106133600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:106130800-106134800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:106131000-106131800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:106131000-106132000	Weak transcription	Left Ventricle	heart
21	chr12:106131000-106132200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:106131000-106132400	Weak transcription	Right Ventricle	heart
23	chr12:106131000-106132600	Enhancers	Fetal Lung	lung
24	chr12:106131000-106133400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:106131200-106131600	Enhancers	HUVEC	blood vessel
26	chr12:106131200-106131800	Weak transcription	Right Atrium	heart
27	chr12:106131200-106132200	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:106131200-106132400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:106131200-106132600	Enhancers	Fetal Heart	heart
30	chr12:106131200-106133200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:106131200-106133200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:106131400-106132400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:106131400-106133200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:106131400-106134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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