Variant report

Variant	rs9544056
Chromosome Location	chr13:76443847-76443848
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76440820-76447842	IMR90	lung:	n/a	n/a
2	POLR2A	chr13:76443710-76444333	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
C13orf45	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12427729	0.92[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12428746	0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12430940	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17065145	0.84[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2120060	0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2120061	0.85[CHB][hapmap]
rs2165774	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2296093	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736858	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3759445	0.85[CHB][hapmap]
rs3783025	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3825439	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41287008	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4885357	0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61959583	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9318380	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530471	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9544049	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9544050	0.92[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9544051	0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9544053	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9544059	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76417600-76444600	Weak transcription	HMEC	breast
2	chr13:76424400-76444200	Weak transcription	Fetal Lung	lung
3	chr13:76428000-76444600	Weak transcription	Fetal Kidney	kidney
4	chr13:76428000-76444800	Weak transcription	Esophagus	oesophagus
5	chr13:76428200-76444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:76428400-76444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:76428400-76444600	Weak transcription	Fetal Heart	heart
8	chr13:76429600-76444600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:76431000-76444600	Weak transcription	Aorta	Aorta
10	chr13:76431600-76444600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:76432000-76444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76432200-76444200	Weak transcription	GM12878-XiMat	blood
13	chr13:76432200-76444600	Weak transcription	Fetal Intestine Small	intestine
14	chr13:76432200-76444600	Weak transcription	Fetal Muscle Leg	muscle
15	chr13:76432200-76444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:76433000-76444400	Weak transcription	Liver	Liver
17	chr13:76433400-76444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:76435200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:76435600-76444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:76436000-76444000	Weak transcription	Fetal Thymus	thymus
21	chr13:76437200-76444600	Weak transcription	HSMMtube	muscle
22	chr13:76438000-76444200	Weak transcription	NHDF-Ad	bronchial
23	chr13:76438200-76444000	Weak transcription	Hela-S3	cervix
24	chr13:76439200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:76439800-76444400	Weak transcription	A549	lung
26	chr13:76440000-76469200	Weak transcription	HSMM	muscle
27	chr13:76442400-76444200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:76443000-76444600	Weak transcription	Ovary	ovary
29	chr13:76443200-76445400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:76443400-76444400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:76443400-76444400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr13:76443400-76445000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:76443400-76445000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:76443400-76445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:76443400-76445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr13:76443600-76444000	Enhancers	Primary T cells from cord blood	blood
37	chr13:76443600-76444000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:76443600-76445000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:76443800-76444000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:76443800-76444000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr13:76443800-76444000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr13:76443800-76444000	Flanking Active TSS	Osteobl	bone
43	chr13:76443800-76444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:76443800-76444200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
45	chr13:76443800-76444600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr13:76443800-76444800	Enhancers	Fetal Brain Female	brain

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