Variant report

Variant	rs9524440
Chromosome Location	chr13:94983847-94983848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17175259	1.00[ASN][1000 genomes]
rs17196161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253836	0.94[ASN][1000 genomes]
rs28378852	0.92[ASN][1000 genomes]
rs28587431	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74103904	0.96[ASN][1000 genomes]
rs7981682	0.92[ASN][1000 genomes]
rs7986556	0.92[ASN][1000 genomes]
rs7986931	0.92[ASN][1000 genomes]
rs9516394	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9516395	0.92[ASN][1000 genomes]
rs9516396	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9516397	0.92[ASN][1000 genomes]
rs9516398	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9516401	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9516403	0.84[EUR][1000 genomes]
rs9516405	0.88[EUR][1000 genomes]
rs9524442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9524443	1.00[EUR][1000 genomes]
rs9524444	0.94[ASN][1000 genomes]
rs9524447	0.87[ASN][1000 genomes]
rs9524448	0.92[ASN][1000 genomes]
rs9524449	0.92[ASN][1000 genomes]
rs9524451	0.88[EUR][1000 genomes]
rs9524453	0.88[EUR][1000 genomes]
rs9524454	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9524456	0.88[EUR][1000 genomes]
rs9524460	0.88[EUR][1000 genomes]
rs9524462	0.88[EUR][1000 genomes]
rs9524467	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94976600-94984000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr13:94979200-94989600	Enhancers	Fetal Muscle Leg	muscle
3	chr13:94979400-94988600	Enhancers	Fetal Stomach	stomach
4	chr13:94979800-94996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:94980000-94984000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr13:94980200-94984000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:94980400-94984000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:94981000-94984000	Enhancers	Esophagus	oesophagus
10	chr13:94981800-94996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:94982800-94985800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:94983000-94984400	Weak transcription	Ovary	ovary
13	chr13:94983000-94984400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:94983000-94984600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:94983000-94984800	Weak transcription	NHLF	lung
16	chr13:94983000-94985600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:94983000-94986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:94983000-94988000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:94983000-94988000	Weak transcription	HSMM	muscle
20	chr13:94983000-94988000	Weak transcription	NHDF-Ad	bronchial
21	chr13:94983000-94988000	Weak transcription	Osteobl	bone
22	chr13:94983000-94988200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:94983000-94988200	Weak transcription	Adipose Nuclei	Adipose
24	chr13:94983000-94990000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:94983000-94996200	Weak transcription	HepG2	liver
26	chr13:94983200-94984000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr13:94983200-94985200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:94983200-94988000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:94983200-94988200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:94983200-94994800	Weak transcription	HSMMtube	muscle
31	chr13:94983200-94995200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:94983400-94984200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr13:94983400-94987800	Weak transcription	Liver	Liver
34	chr13:94983600-94984000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:94983800-94984000	Enhancers	Primary T cells from cord blood	blood
36	chr13:94983800-94984000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr13:94983800-94984600	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:94983800-94985400	Enhancers	Fetal Lung	lung

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