Variant report

Variant	rs1927193
Chromosome Location	chr13:30331068-30331069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1058650	0.86[ASN][1000 genomes]
rs11147398	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1323931	0.80[ASN][1000 genomes]
rs1410110	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1854176	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2234416	0.86[ASN][1000 genomes]
rs2761938	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2761939	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2761940	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278034	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4083610	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4238128	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4265673	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4297554	0.80[ASN][1000 genomes]
rs4769772	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4769775	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490429	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6490430	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72623487	0.91[ASN][1000 genomes]
rs7320474	0.80[ASN][1000 genomes]
rs7326253	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7330356	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7331353	0.80[AFR][1000 genomes]
rs7335148	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7342470	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7995666	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9314972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314973	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9314974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9314975	0.88[ASN][1000 genomes]
rs9314978	0.80[ASN][1000 genomes]
rs9506226	0.81[ASN][1000 genomes]
rs9506229	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9506231	0.80[ASN][1000 genomes]
rs9508550	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9508554	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508557	0.80[ASN][1000 genomes]
rs9508568	0.82[ASN][1000 genomes]
rs9550494	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551739	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9551741	0.86[ASN][1000 genomes]
rs9551744	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9578136	0.86[ASN][1000 genomes]
rs9578139	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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:26 , 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	chr13:30328400-30337200	Weak transcription	Osteobl	bone
5	chr13:30328400-30340600	Weak transcription	NHLF	lung
6	chr13:30328600-30333000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:30328600-30337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:30328800-30337200	Weak transcription	NHDF-Ad	bronchial
10	chr13:30328800-30337400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:30328800-30340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:30328800-30340400	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:30328800-30340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
15	chr13:30328800-30351800	Weak transcription	NH-A	brain
16	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:30329000-30332800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:30329000-30335800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:30329200-30332800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:30329200-30332800	Weak transcription	HepG2	liver
21	chr13:30329200-30335400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:30329200-30338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:30329200-30340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:30329200-30340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum

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