Variant report

Variant	rs17071675
Chromosome Location	chr13:48976827-48976828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs17069281	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs17071673	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071714	1.00[EUR][1000 genomes]
rs17071716	1.00[EUR][1000 genomes]
rs3092865	1.00[EUR][1000 genomes]
rs3092883	1.00[EUR][1000 genomes]
rs3901587	1.00[EUR][1000 genomes]
rs41425345	1.00[EUR][1000 genomes]
rs4151460	1.00[EUR][1000 genomes]
rs4151468	1.00[EUR][1000 genomes]
rs4151487	1.00[EUR][1000 genomes]
rs4151514	1.00[EUR][1000 genomes]
rs4151516	1.00[EUR][1000 genomes]
rs4151527	1.00[EUR][1000 genomes]
rs4151563	1.00[EUR][1000 genomes]
rs4151587	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4151621	1.00[EUR][1000 genomes]
rs4151628	1.00[EUR][1000 genomes]
rs4303378	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs59550884	1.00[EUR][1000 genomes]
rs6561463	1.00[EUR][1000 genomes]
rs6561467	1.00[EUR][1000 genomes]
rs7316991	1.00[EUR][1000 genomes]
rs7321847	1.00[EUR][1000 genomes]
rs7323517	1.00[EUR][1000 genomes]
rs7324752	1.00[EUR][1000 genomes]
rs7325924	1.00[EUR][1000 genomes]
rs7329733	1.00[EUR][1000 genomes]
rs7333561	1.00[EUR][1000 genomes]
rs7337056	1.00[EUR][1000 genomes]
rs73487075	1.00[EUR][1000 genomes]
rs73487091	1.00[EUR][1000 genomes]
rs73490880	1.00[EUR][1000 genomes]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs7981750	1.00[EUR][1000 genomes]
rs7984036	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7984309	1.00[EUR][1000 genomes]
rs7997794	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9331954	1.00[EUR][1000 genomes]
rs9332019	1.00[EUR][1000 genomes]
rs9332048	1.00[EUR][1000 genomes]
rs9332086	1.00[EUR][1000 genomes]
rs9332251	1.00[EUR][1000 genomes]
rs9332256	1.00[EUR][1000 genomes]
rs9332287	1.00[EUR][1000 genomes]
rs9332296	1.00[EUR][1000 genomes]
rs9332298	1.00[EUR][1000 genomes]
rs943282	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	esv1803998	chr13:48966078-48986320	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1050786	chr13:48971510-48987032	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48916800-48985400	Weak transcription	Colonic Mucosa	Colon
2	chr13:48934600-48984200	Weak transcription	Right Ventricle	heart
3	chr13:48943600-48984200	Weak transcription	Brain Angular Gyrus	brain
4	chr13:48944600-48983400	Weak transcription	Psoas Muscle	Psoas
5	chr13:48966400-48986000	Weak transcription	Lung	lung
6	chr13:48966800-48984200	Weak transcription	Placenta	Placenta
7	chr13:48968800-48977800	Weak transcription	Spleen	Spleen
8	chr13:48968800-48984200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:48969000-48984200	Weak transcription	Fetal Intestine Large	intestine
10	chr13:48969000-48984400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:48969200-48978000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:48969200-48978000	Weak transcription	Esophagus	oesophagus
13	chr13:48969200-48984200	Weak transcription	Fetal Stomach	stomach
14	chr13:48969200-48984400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:48970200-48977600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr13:48970600-48984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:48971600-48977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:48972000-48977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:48972000-48977400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:48972000-48977800	Enhancers	HMEC	breast
21	chr13:48972000-48978000	Enhancers	Osteobl	bone
22	chr13:48972000-48978800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:48972000-48980000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:48972600-48982600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr13:48972800-48977600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:48973600-48977200	Enhancers	Adipose Nuclei	Adipose
27	chr13:48973800-48978600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:48973800-48984000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr13:48974000-48977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr13:48974000-48977200	Enhancers	Fetal Lung	lung
31	chr13:48974400-48979000	Enhancers	Primary hematopoietic stem cells	blood
32	chr13:48974600-48977200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr13:48974600-48977600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:48974600-48977600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:48974600-48978400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr13:48974600-48986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:48974800-48978000	Enhancers	Primary T cells from cord blood	blood
38	chr13:48975000-48977400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr13:48975200-48977000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:48975200-48977200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:48975200-48978000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:48975200-48978200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr13:48975200-48978600	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:48975200-48979800	Weak transcription	Fetal Heart	heart
45	chr13:48975200-48980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:48975200-48983800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:48975200-48984000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:48975200-48984200	Weak transcription	Fetal Intestine Small	intestine
49	chr13:48975200-48985400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr13:48975400-48977200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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