Variant report

Variant	rs10880317
Chromosome Location	chr12:42964547-42964548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10785348	0.80[EUR][1000 genomes]
rs10880316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11181564	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11181566	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611916	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613770	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2406868	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42946800-42975200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:42959200-42969000	Weak transcription	Fetal Stomach	stomach
4	chr12:42959200-42971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:42959800-42965200	Weak transcription	Ovary	ovary
7	chr12:42959800-42968400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:42960000-42967400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:42960000-42969600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:42960000-42969800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:42960000-42976000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:42960200-42968000	Weak transcription	Aorta	Aorta
13	chr12:42960400-42965200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:42960400-42965200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:42960400-42967800	Weak transcription	Left Ventricle	heart
16	chr12:42960400-42981400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:42962800-42965800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:42963600-42964800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:42963600-42969600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:42963800-42964800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:42963800-42965200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:42963800-42965200	Weak transcription	Stomach Mucosa	stomach
23	chr12:42963800-42965800	Enhancers	Fetal Heart	heart
24	chr12:42963800-42967800	Weak transcription	HSMMtube	muscle
25	chr12:42963800-42977200	Weak transcription	HSMM	muscle
26	chr12:42963800-42978400	Weak transcription	NH-A	brain
27	chr12:42964000-42965000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:42964000-42965200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:42964000-42965200	Weak transcription	Fetal Lung	lung
30	chr12:42964000-42967600	Weak transcription	Osteobl	bone
31	chr12:42964000-42969600	Weak transcription	HMEC	breast
32	chr12:42964000-42969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:42964200-42964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:42964200-42964800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:42964200-42966600	Weak transcription	HUVEC	blood vessel
36	chr12:42964200-42969000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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