Variant report

Variant	rs7996553
Chromosome Location	chr13:110768615-110768616
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A1-3	chr13:110767286-110769562	l_918_chr13:110767285-110770858_testes

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11619453	0.81[ASN][1000 genomes]
rs7334874	0.82[ASN][1000 genomes]
rs7334892	0.82[ASN][1000 genomes]
rs9515145	0.85[ASN][1000 genomes]
rs9515146	0.84[ASN][1000 genomes]
rs9515148	0.81[ASN][1000 genomes]
rs9521603	0.84[ASN][1000 genomes]
rs9521604	0.84[ASN][1000 genomes]
rs9521605	0.83[ASN][1000 genomes]
rs9521606	0.97[ASN][1000 genomes]
rs9559736	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr13:110763000-110772600	Weak transcription	Left Ventricle	heart
2	chr13:110763000-110775400	Weak transcription	HSMMtube	muscle
3	chr13:110765200-110768800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:110765200-110769400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:110765800-110775800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:110766200-110772600	Weak transcription	Right Ventricle	heart
7	chr13:110766200-110773000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:110766400-110769000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:110766600-110772600	Weak transcription	GM12878-XiMat	blood
10	chr13:110766600-110775800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:110767000-110774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:110767200-110769800	Weak transcription	NHEK	skin
13	chr13:110767200-110770200	Weak transcription	Adipose Nuclei	Adipose
14	chr13:110767400-110768800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:110767400-110772600	Weak transcription	NH-A	brain
16	chr13:110767600-110768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:110767800-110769200	Enhancers	Esophagus	oesophagus
18	chr13:110768000-110772600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:110768000-110772600	Weak transcription	HMEC	breast
20	chr13:110768400-110768800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:110768400-110768800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr13:110768400-110768800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:110768400-110768800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:110768400-110768800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr13:110768400-110769200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr13:110768400-110772600	Weak transcription	A549	lung
27	chr13:110768600-110768800	Enhancers	Primary B cells from cord blood	blood
28	chr13:110768600-110768800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr13:110768600-110768800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:110768600-110768800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:110768600-110768800	Enhancers	Liver	Liver
32	chr13:110768600-110768800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr13:110768600-110768800	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr13:110768600-110768800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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