Variant report

Variant	rs17104250
Chromosome Location	chr5:145500101-145500102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10515568	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11540216	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952903	0.83[EUR][1000 genomes]
rs11959720	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12186358	0.93[YRI][hapmap]
rs17104247	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104260	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104266	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104268	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104293	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17104318	1.00[CEU][hapmap]
rs17104321	1.00[CEU][hapmap]
rs17104322	1.00[CEU][hapmap]
rs17104324	1.00[CEU][hapmap]
rs17104331	1.00[CEU][hapmap]
rs17104347	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104362	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104371	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104395	0.80[EUR][1000 genomes]
rs17500483	0.92[YRI][hapmap]
rs2895652	1.00[CEU][hapmap]
rs3812244	1.00[CHB][hapmap]
rs4631229	0.83[EUR][1000 genomes]
rs56864252	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57466173	0.83[EUR][1000 genomes]
rs57722184	0.83[EUR][1000 genomes]
rs58569901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58922378	0.83[EUR][1000 genomes]
rs61455974	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66507348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66891285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67350755	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67721586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67897591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68040240	0.81[EUR][1000 genomes]
rs6870249	0.83[EUR][1000 genomes]
rs6871866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882243	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72806113	0.83[EUR][1000 genomes]
rs72806116	0.83[EUR][1000 genomes]
rs72806136	0.83[EUR][1000 genomes]
rs72806144	0.83[EUR][1000 genomes]
rs72806155	0.83[EUR][1000 genomes]
rs72806173	0.81[EUR][1000 genomes]
rs72806176	0.80[EUR][1000 genomes]
rs72820451	1.00[EUR][1000 genomes]
rs72820464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72822208	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822263	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822274	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72822293	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822296	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72824110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72824123	0.83[EUR][1000 genomes]
rs72824124	0.83[EUR][1000 genomes]
rs73315720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317887	0.83[EUR][1000 genomes]
rs73317890	0.83[EUR][1000 genomes]
rs7725078	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1796142	chr5:145484386-145505556	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1827255	chr5:145484386-145505556	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145482200-145500800	Weak transcription	Aorta	Aorta
3	chr5:145482600-145501200	Weak transcription	Thymus	Thymus
4	chr5:145483400-145501200	Weak transcription	Esophagus	oesophagus
5	chr5:145485000-145505400	Weak transcription	Gastric	stomach
6	chr5:145490400-145501200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:145490600-145501400	Weak transcription	Colonic Mucosa	Colon
8	chr5:145490600-145501800	Weak transcription	NHLF	lung
9	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:145491000-145509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:145491000-145510600	Strong transcription	HSMM	muscle
12	chr5:145491000-145517600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:145491000-145518800	Strong transcription	Dnd41	blood
14	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:145491200-145505200	Weak transcription	Ovary	ovary
19	chr5:145491200-145509800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr5:145491200-145518000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:145491200-145534000	Strong transcription	Osteobl	bone
22	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
26	chr5:145491400-145509400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:145491400-145510000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:145491400-145512400	Weak transcription	Right Ventricle	heart
29	chr5:145491400-145515400	Strong transcription	Liver	Liver
30	chr5:145491400-145516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:145491400-145516600	Strong transcription	NH-A	brain
32	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:145491600-145505600	Weak transcription	Small Intestine	intestine
35	chr5:145491600-145509800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:145491800-145503000	Strong transcription	Primary T cells from cord blood	blood
39	chr5:145491800-145503000	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:145491800-145503400	Strong transcription	Fetal Thymus	thymus
41	chr5:145491800-145506400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:145491800-145515400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:145491800-145524800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:145491800-145541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:145491800-145546400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr5:145492000-145505200	Weak transcription	Lung	lung
47	chr5:145492000-145506200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:145492200-145510000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links