Variant report

Variant	rs12123946
Chromosome Location	chr1:171868288-171868289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12121064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133814	0.93[ASN][1000 genomes]
rs12134649	0.87[ASN][1000 genomes]
rs12135871	1.00[ASN][1000 genomes]
rs12136630	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12137824	1.00[ASN][1000 genomes]
rs12137825	1.00[ASN][1000 genomes]
rs12140482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141726	1.00[ASN][1000 genomes]
rs12141865	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143501	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421949	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817923	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61805807	1.00[ASN][1000 genomes]
rs6673009	1.00[ASN][1000 genomes]
rs74126507	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126515	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126524	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74126528	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171862200-171882600	Weak transcription	Aorta	Aorta
2	chr1:171866400-171870800	Enhancers	Fetal Brain Male	brain
3	chr1:171867200-171868800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:171867200-171870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:171867800-171868800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:171868000-171868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:171868000-171868400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:171868000-171868400	Enhancers	Esophagus	oesophagus
9	chr1:171868000-171868600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:171868000-171868600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:171868000-171868600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:171868000-171868600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr1:171868000-171868600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:171868000-171868600	Flanking Active TSS	Fetal Brain Female	brain
15	chr1:171868000-171868800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:171868000-171868800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:171868000-171868800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:171868000-171868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:171868000-171868800	Enhancers	Fetal Lung	lung
20	chr1:171868000-171869000	Active TSS	Brain Angular Gyrus	brain
21	chr1:171868000-171869200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:171868000-171869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:171868000-171869200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:171868000-171869400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:171868000-171869400	Active TSS	Brain Substantia Nigra	brain
26	chr1:171868200-171868400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:171868200-171868400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:171868200-171868400	Enhancers	Brain Hippocampus Middle	brain
29	chr1:171868200-171868400	Enhancers	Left Ventricle	heart
30	chr1:171868200-171868400	Enhancers	Right Atrium	heart
31	chr1:171868200-171868600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:171868200-171868600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:171868200-171868600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:171868200-171868600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:171868200-171868600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:171868200-171868600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:171868200-171868600	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:171868200-171868600	Flanking Active TSS	HMEC	breast
39	chr1:171868200-171868600	Enhancers	NH-A	brain
40	chr1:171868200-171868600	Flanking Active TSS	NHEK	skin
41	chr1:171868200-171868800	Active TSS	Brain Anterior Caudate	brain
42	chr1:171868200-171869000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:171868200-171869200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:171868200-171869200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:171868200-171869400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:171868200-171869400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:171868200-171869800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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