Variant report

Variant	rs4148459
Chromosome Location	chr13:95887182-95887183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10508020	0.83[ASN][1000 genomes]
rs16952754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17189540	0.92[EUR][1000 genomes]
rs17268275	0.90[EUR][1000 genomes]
rs17268282	0.86[EUR][1000 genomes]
rs4148456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148466	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148473	0.83[ASN][1000 genomes]
rs61965939	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61965965	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61972720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61972742	0.88[EUR][1000 genomes]
rs61972743	0.90[EUR][1000 genomes]
rs61972757	0.90[EUR][1000 genomes]
rs61972758	0.90[EUR][1000 genomes]
rs61972759	0.90[EUR][1000 genomes]
rs74105487	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs873705	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9302048	0.83[ASN][1000 genomes]
rs9302049	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9516540	0.83[ASN][1000 genomes]
rs9590204	0.98[EUR][1000 genomes]
rs9590205	0.98[EUR][1000 genomes]
rs9590230	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
2	chr13:95856400-95898200	Weak transcription	NHEK	skin
3	chr13:95859000-95887800	Weak transcription	HSMM	muscle
4	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
5	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
6	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
11	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:95863200-95895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:95866200-95887600	Weak transcription	HUVEC	blood vessel
14	chr13:95866200-95897400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:95866200-95897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:95872000-95897600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:95872200-95897400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:95874800-95888200	Weak transcription	NHLF	lung
19	chr13:95874800-95897800	Weak transcription	Pancreas	Pancrea
20	chr13:95874800-95898200	Weak transcription	Colonic Mucosa	Colon
21	chr13:95875000-95897600	Weak transcription	Fetal Intestine Large	intestine
22	chr13:95879200-95887600	Weak transcription	Gastric	stomach
23	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
24	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr13:95879400-95897400	Weak transcription	Fetal Intestine Small	intestine
26	chr13:95879600-95893800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:95879600-95898200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr13:95880000-95887200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
30	chr13:95880800-95887800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:95880800-95888000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:95880800-95898600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr13:95880800-95902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:95881600-95904000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:95881800-95887200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr13:95882200-95887600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:95882200-95898200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:95884000-95895400	Weak transcription	Lung	lung
39	chr13:95884000-95898200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:95884200-95887600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:95884200-95901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:95884600-95898200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
44	chr13:95885600-95888400	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:95885800-95887200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:95885800-95888600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:95885800-95889200	Weak transcription	K562	blood
48	chr13:95886600-95887200	Strong transcription	A549	lung
49	chr13:95886800-95887800	Weak transcription	Fetal Stomach	stomach
50	chr13:95887000-95887800	Enhancers	GM12878-XiMat	blood

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