Variant report

Variant	rs7311987
Chromosome Location	chr12:12423344-12423345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10431232	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431303	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743981	0.92[EUR][1000 genomes]
rs1074992	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1074993	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772544	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845498	0.85[EUR][1000 genomes]
rs10845504	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10845505	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11054752	0.92[EUR][1000 genomes]
rs1468878	0.85[EUR][1000 genomes]
rs1548958	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16907810	0.83[EUR][1000 genomes]
rs2160589	0.89[EUR][1000 genomes]
rs2417090	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4265667	0.89[EUR][1000 genomes]
rs4494380	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4619236	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763789	0.90[EUR][1000 genomes]
rs61130413	0.83[EUR][1000 genomes]
rs7134001	0.90[EUR][1000 genomes]
rs7136380	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7295656	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296283	0.95[ASN][1000 genomes]
rs7310538	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7313285	0.89[EUR][1000 genomes]
rs7968660	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12420800-12425600	Weak transcription	HSMM	muscle
2	chr12:12421000-12423800	Weak transcription	Right Atrium	heart
3	chr12:12421000-12425200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:12421000-12425200	Weak transcription	NHDF-Ad	bronchial
5	chr12:12421000-12425200	Weak transcription	Osteobl	bone
6	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:12421000-12425600	Weak transcription	NHLF	lung
9	chr12:12421000-12425800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:12421000-12425800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:12421000-12425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:12421000-12425800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:12421000-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:12421000-12425800	Weak transcription	NH-A	brain
15	chr12:12421000-12426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:12421000-12426000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:12421200-12423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:12421200-12423600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:12421200-12425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:12421200-12425600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:12421200-12425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:12421200-12425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:12421200-12425800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:12421200-12425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:12421200-12425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:12421200-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:12421200-12425800	Weak transcription	Fetal Kidney	kidney
29	chr12:12421200-12425800	Weak transcription	Fetal Lung	lung
30	chr12:12421200-12425800	Weak transcription	HMEC	breast
31	chr12:12421200-12426000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:12421200-12428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:12421400-12423600	Weak transcription	A549	lung
34	chr12:12421400-12425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:12421400-12425800	Weak transcription	Hela-S3	cervix
36	chr12:12421400-12426000	Weak transcription	HepG2	liver
37	chr12:12421400-12426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:12421600-12426000	Weak transcription	H1 Cell Line	embryonic stem cell

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