Variant report

Variant	rs72623487
Chromosome Location	chr13:30328960-30328961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1058650	0.95[ASN][1000 genomes]
rs11147398	0.81[ASN][1000 genomes]
rs12872400	0.88[ASN][1000 genomes]
rs1323931	0.89[ASN][1000 genomes]
rs1410110	0.80[ASN][1000 genomes]
rs1854176	0.89[ASN][1000 genomes]
rs1927193	0.91[ASN][1000 genomes]
rs2025604	0.82[ASN][1000 genomes]
rs2182129	0.82[ASN][1000 genomes]
rs2234416	0.95[ASN][1000 genomes]
rs2388246	0.82[ASN][1000 genomes]
rs35541102	0.88[ASN][1000 genomes]
rs4083610	0.81[ASN][1000 genomes]
rs4238128	0.81[ASN][1000 genomes]
rs4265673	0.80[ASN][1000 genomes]
rs4297554	0.89[ASN][1000 genomes]
rs4769772	0.89[ASN][1000 genomes]
rs4769775	0.81[ASN][1000 genomes]
rs6490429	0.80[ASN][1000 genomes]
rs6490430	0.80[ASN][1000 genomes]
rs7320474	0.89[ASN][1000 genomes]
rs7326253	0.80[ASN][1000 genomes]
rs7335148	0.80[ASN][1000 genomes]
rs7342470	0.87[ASN][1000 genomes]
rs765404	0.82[ASN][1000 genomes]
rs7981622	0.86[ASN][1000 genomes]
rs7995666	0.81[ASN][1000 genomes]
rs9314972	0.91[ASN][1000 genomes]
rs9314973	0.90[ASN][1000 genomes]
rs9314974	0.90[ASN][1000 genomes]
rs9314975	0.98[ASN][1000 genomes]
rs9314978	0.89[ASN][1000 genomes]
rs9506226	0.90[ASN][1000 genomes]
rs9506229	0.80[ASN][1000 genomes]
rs9506231	0.89[ASN][1000 genomes]
rs9506233	0.85[ASN][1000 genomes]
rs9508550	0.89[ASN][1000 genomes]
rs9508553	0.88[ASN][1000 genomes]
rs9508554	0.81[ASN][1000 genomes]
rs9508557	0.89[ASN][1000 genomes]
rs9508558	0.86[ASN][1000 genomes]
rs9508559	0.88[ASN][1000 genomes]
rs9508560	0.84[ASN][1000 genomes]
rs9508561	0.80[ASN][1000 genomes]
rs9508564	0.86[ASN][1000 genomes]
rs9551739	0.89[ASN][1000 genomes]
rs9551741	0.95[ASN][1000 genomes]
rs9551751	0.84[ASN][1000 genomes]
rs9578136	0.95[ASN][1000 genomes]
rs9578139	0.80[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30317600-30335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
4	chr13:30327800-30329200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:30327800-30329200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:30328000-30329000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:30328000-30329000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:30328000-30329000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:30328000-30329200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:30328000-30329200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:30328000-30329200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:30328200-30329000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:30328200-30329000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:30328200-30329000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:30328200-30329200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:30328400-30329200	Enhancers	HepG2	liver
17	chr13:30328400-30337200	Weak transcription	Osteobl	bone
18	chr13:30328400-30340600	Weak transcription	NHLF	lung
19	chr13:30328600-30330800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr13:30328600-30333000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:30328600-30337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:30328800-30337200	Weak transcription	NHDF-Ad	bronchial
24	chr13:30328800-30337400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:30328800-30340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:30328800-30340400	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:30328800-30340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
29	chr13:30328800-30351800	Weak transcription	NH-A	brain
30	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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