Variant report

Variant	rs58495080
Chromosome Location	chr2:58437974-58437975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58437256..58439739-chr2:58439899..58441401,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17049347	1.00[AMR][1000 genomes]
rs17049370	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049374	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049389	0.87[AFR][1000 genomes]
rs17049404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55925609	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59264390	1.00[AMR][1000 genomes]
rs59299963	1.00[AMR][1000 genomes]
rs60912631	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61126591	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942281	1.00[AMR][1000 genomes]
rs73944812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944823	1.00[AMR][1000 genomes]
rs73944826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944837	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944838	1.00[AMR][1000 genomes]
rs73944839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944840	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587116	1.00[AMR][1000 genomes]
rs7587229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:58391000-58467000	Weak transcription	HMEC	breast
4	chr2:58396400-58438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:58396400-58438000	Weak transcription	Pancreas	Pancrea
6	chr2:58397800-58442600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:58403000-58439400	Weak transcription	HSMM	muscle
8	chr2:58413800-58438000	Weak transcription	Thymus	Thymus
9	chr2:58414000-58461400	Weak transcription	NHEK	skin
10	chr2:58414400-58438000	Weak transcription	Esophagus	oesophagus
11	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:58416400-58438000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:58417800-58439200	Weak transcription	Fetal Brain Male	brain
15	chr2:58421600-58452400	Weak transcription	NH-A	brain
16	chr2:58422000-58442800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
18	chr2:58425000-58442200	Weak transcription	Fetal Heart	heart
19	chr2:58425400-58438400	Weak transcription	Ovary	ovary
20	chr2:58425600-58446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:58425800-58446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:58426400-58438000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:58429200-58438000	Weak transcription	Fetal Stomach	stomach
24	chr2:58429600-58439600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:58430000-58440400	Weak transcription	Hela-S3	cervix
26	chr2:58430600-58438000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:58431400-58440200	Weak transcription	NHDF-Ad	bronchial
28	chr2:58432000-58445600	Weak transcription	Osteobl	bone
29	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:58432200-58442400	Weak transcription	HUVEC	blood vessel
31	chr2:58432600-58438000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:58433600-58454200	Weak transcription	Gastric	stomach
33	chr2:58434000-58438000	Weak transcription	A549	lung
34	chr2:58434200-58438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:58434400-58438000	Weak transcription	Fetal Thymus	thymus
36	chr2:58434600-58438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:58434800-58438000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:58436000-58438200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:58436400-58438000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:58436800-58438000	Strong transcription	Liver	Liver
41	chr2:58436800-58438400	Weak transcription	Primary T cells from cord blood	blood
42	chr2:58437000-58440000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:58437200-58438000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:58437200-58438600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:58437200-58440800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:58437200-58440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr2:58437200-58440800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:58437200-58441200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:58437200-58442400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links