Variant report

Variant	rs60150013
Chromosome Location	chr1:185934016-185934017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11799929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800686	1.00[AMR][1000 genomes]
rs11801652	0.83[AMR][1000 genomes]
rs11801883	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809362	0.83[AMR][1000 genomes]
rs11811425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824844	0.83[AMR][1000 genomes]
rs2383270	0.83[AMR][1000 genomes]
rs2383429	0.83[AMR][1000 genomes]
rs2891184	0.83[AMR][1000 genomes]
rs34460141	0.83[AMR][1000 genomes]
rs35576281	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55653538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55679110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55861690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55869520	0.83[AMR][1000 genomes]
rs55888716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57060687	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60600910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61338512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134233	0.83[AMR][1000 genomes]
rs74134234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134242	0.83[AMR][1000 genomes]
rs74134245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134246	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134251	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134252	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134254	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134257	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134258	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134269	0.83[AMR][1000 genomes]
rs74134273	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
4	chr1:185930000-185935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:185930600-185938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:185930600-185938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:185931200-185934800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:185931400-185935200	Weak transcription	Fetal Kidney	kidney
9	chr1:185931400-185940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:185931400-185940800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:185931800-185934200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:185931800-185938600	Weak transcription	Fetal Lung	lung
13	chr1:185931800-185938600	Weak transcription	Fetal Stomach	stomach
14	chr1:185931800-185941200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:185932600-185934800	Weak transcription	Aorta	Aorta
16	chr1:185933600-185934200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:185933600-185934200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:185933600-185934400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:185933600-185934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:185933600-185934400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:185933600-185934600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:185933600-185934600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:185933600-185934800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:185933600-185935400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:185933600-185935800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:185933600-185936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:185933800-185934200	Flanking Active TSS	K562	blood
28	chr1:185933800-185934400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:185933800-185934400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:185933800-185934400	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:185933800-185934600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:185933800-185934800	Enhancers	NHDF-Ad	bronchial
33	chr1:185934000-185934400	Enhancers	Colon Smooth Muscle	Colon
34	chr1:185934000-185934400	Weak transcription	NHLF	lung

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