Variant report

Variant	rs17826253
Chromosome Location	chr13:39629968-39629969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39531190..39533683-chr13:39627978..39630971,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12428338	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12428487	0.88[CEU][hapmap]
rs12429615	0.90[EUR][1000 genomes]
rs12430798	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12431010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431083	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12431327	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1575886	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17226184	0.88[CEU][hapmap]
rs17226219	0.88[CEU][hapmap]
rs17226809	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17235076	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17235139	1.00[AFR][1000 genomes]
rs41286135	1.00[AFR][1000 genomes]
rs41286945	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
2	chr13:39613200-39636400	Weak transcription	Gastric	stomach
3	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
4	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
5	chr13:39613200-39647200	Weak transcription	Lung	lung
6	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
7	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
8	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
9	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
11	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine
12	chr13:39615000-39638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:39615200-39631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:39615200-39637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:39618600-39643800	Weak transcription	Ovary	ovary
16	chr13:39619200-39631800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:39619600-39632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:39620000-39633600	Weak transcription	GM12878-XiMat	blood
19	chr13:39620000-39644200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:39622600-39631800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr13:39622600-39643000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr13:39622800-39631400	Weak transcription	Fetal Lung	lung
23	chr13:39622800-39639000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:39623600-39636200	Weak transcription	Fetal Intestine Large	intestine
25	chr13:39624000-39644400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:39625800-39630600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr13:39627600-39630000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:39627800-39630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:39627800-39630000	Weak transcription	Fetal Thymus	thymus
30	chr13:39627800-39630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:39627800-39630200	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:39627800-39640800	Weak transcription	Adipose Nuclei	Adipose
33	chr13:39627800-39641000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:39628000-39630200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:39628000-39637600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:39628000-39640600	Weak transcription	Primary T cells from cord blood	blood
37	chr13:39628000-39644000	Weak transcription	Dnd41	blood
38	chr13:39628000-39645400	Weak transcription	Primary B cells from cord blood	blood
39	chr13:39628000-39645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:39628200-39630000	Weak transcription	Fetal Brain Female	brain
41	chr13:39628200-39643600	Weak transcription	Liver	Liver
42	chr13:39628200-39646800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:39628400-39636200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:39628400-39645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:39628800-39630200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:39628800-39630200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:39628800-39630200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:39629000-39630200	Weak transcription	Brain Anterior Caudate	brain
49	chr13:39629400-39630200	Weak transcription	Brain Hippocampus Middle	brain

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