Variant report

Variant	rs41287014
Chromosome Location	chr13:76432772-76432773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13378536	1.00[EUR][1000 genomes]
rs41307595	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58829651	0.87[EUR][1000 genomes]
rs66538840	0.87[EUR][1000 genomes]
rs68188615	0.83[EUR][1000 genomes]
rs7322777	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227983	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73227994	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73227996	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73229911	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73229981	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230001	1.00[EUR][1000 genomes]
rs8001457	0.87[EUR][1000 genomes]
rs9318382	1.00[EUR][1000 genomes]
rs9318383	1.00[EUR][1000 genomes]
rs9573666	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9573669	0.82[EUR][1000 genomes]
rs9573670	0.95[EUR][1000 genomes]
rs9593139	0.95[EUR][1000 genomes]
rs9600589	1.00[EUR][1000 genomes]
rs9600591	1.00[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	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
3	chr13:76399000-76433200	Weak transcription	Small Intestine	intestine
4	chr13:76399800-76433000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:76406000-76436800	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr13:76406600-76435000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:76408400-76435000	Strong transcription	HSMMtube	muscle
8	chr13:76408400-76435200	Strong transcription	NH-A	brain
9	chr13:76413200-76436800	Strong transcription	NHDF-Ad	bronchial
10	chr13:76413800-76437600	Strong transcription	HSMM	muscle
11	chr13:76414000-76433000	Strong transcription	Liver	Liver
12	chr13:76414200-76433400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:76414400-76435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:76416400-76434600	Weak transcription	Spleen	Spleen
15	chr13:76417400-76433000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr13:76417400-76434600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
18	chr13:76417600-76434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:76417600-76436800	Weak transcription	Psoas Muscle	Psoas
20	chr13:76417600-76437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:76417600-76444600	Weak transcription	HMEC	breast
22	chr13:76417800-76433400	Weak transcription	Primary B cells from cord blood	blood
23	chr13:76417800-76438800	Weak transcription	A549	lung
24	chr13:76424400-76444200	Weak transcription	Fetal Lung	lung
25	chr13:76426600-76433000	Strong transcription	NHLF	lung
26	chr13:76427400-76440800	Weak transcription	Ovary	ovary
27	chr13:76427600-76433600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:76428000-76434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:76428000-76435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr13:76428000-76444600	Weak transcription	Fetal Kidney	kidney
31	chr13:76428000-76444800	Weak transcription	Esophagus	oesophagus
32	chr13:76428200-76434200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:76428200-76437400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:76428200-76444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:76428400-76444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:76428400-76444600	Weak transcription	Fetal Heart	heart
37	chr13:76429000-76434800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr13:76429600-76444600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:76429800-76432800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr13:76429800-76435200	Weak transcription	Placenta	Placenta
41	chr13:76431000-76434800	Strong transcription	Osteobl	bone
42	chr13:76431000-76435800	Weak transcription	Fetal Stomach	stomach
43	chr13:76431000-76435800	Weak transcription	Fetal Thymus	thymus
44	chr13:76431000-76436800	Weak transcription	Gastric	stomach
45	chr13:76431000-76438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:76431000-76444600	Weak transcription	Aorta	Aorta
47	chr13:76431200-76436600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:76431200-76436600	Weak transcription	Lung	lung
49	chr13:76431600-76433800	Weak transcription	Hela-S3	cervix
50	chr13:76431600-76435200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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