Variant report

Variant	rs17534354
Chromosome Location	chr5:108383942-108383943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11948881	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs11949066	0.82[EUR][1000 genomes]
rs11949367	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11949510	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs11949619	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11949648	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11949706	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11951971	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11951974	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11952227	0.86[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs11952572	0.82[EUR][1000 genomes]
rs11953136	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11953486	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs11954716	0.86[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs11954988	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11955886	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11956908	0.89[EUR][1000 genomes]
rs11957358	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11958918	0.84[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs11959492	0.97[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11959577	0.91[EUR][1000 genomes]
rs11959681	0.84[CEU][hapmap]
rs34412145	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34679271	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3851457	0.84[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs3851458	0.89[EUR][1000 genomes]
rs57404758	0.83[EUR][1000 genomes]
rs57622369	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59216020	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60946864	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787096	0.84[EUR][1000 genomes]
rs72787098	0.84[EUR][1000 genomes]
rs72787099	0.83[EUR][1000 genomes]
rs72787100	0.84[EUR][1000 genomes]
rs72787101	0.84[EUR][1000 genomes]
rs72787102	0.84[EUR][1000 genomes]
rs72789304	0.84[EUR][1000 genomes]
rs72789305	0.83[EUR][1000 genomes]
rs72789306	0.84[EUR][1000 genomes]
rs72789307	0.84[EUR][1000 genomes]
rs72789308	0.84[EUR][1000 genomes]
rs72789309	0.84[EUR][1000 genomes]
rs72789312	0.87[EUR][1000 genomes]
rs72789313	0.87[EUR][1000 genomes]
rs72789315	0.88[EUR][1000 genomes]
rs72789316	0.89[EUR][1000 genomes]
rs72789319	0.89[EUR][1000 genomes]
rs72789320	0.88[EUR][1000 genomes]
rs72789326	0.89[EUR][1000 genomes]
rs72789332	0.89[EUR][1000 genomes]
rs72789333	0.88[EUR][1000 genomes]
rs72789335	0.89[EUR][1000 genomes]
rs72789341	0.89[EUR][1000 genomes]
rs72789345	0.89[EUR][1000 genomes]
rs72789347	0.89[EUR][1000 genomes]
rs72789348	0.89[EUR][1000 genomes]
rs72789350	0.89[EUR][1000 genomes]
rs72789352	0.88[EUR][1000 genomes]
rs72790510	0.89[EUR][1000 genomes]
rs72790512	0.89[EUR][1000 genomes]
rs72790514	0.89[EUR][1000 genomes]
rs72790515	0.89[EUR][1000 genomes]
rs72790520	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72790521	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72790524	0.96[EUR][1000 genomes]
rs72790525	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790528	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790529	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790530	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790538	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790539	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790542	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790545	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790546	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790548	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72790551	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790552	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72790559	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790562	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790565	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790567	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790568	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790574	0.98[EUR][1000 genomes]
rs72790577	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790579	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790585	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72793926	0.84[EUR][1000 genomes]
rs72793927	0.84[EUR][1000 genomes]
rs72793933	0.84[EUR][1000 genomes]
rs7734904	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs7735425	0.84[EUR][1000 genomes]
rs919771	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108356000-108399000	Weak transcription	HSMM	muscle
3	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:108360400-108400400	Weak transcription	NHEK	skin
10	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
12	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:108365600-108389400	Weak transcription	HepG2	liver
14	chr5:108366600-108387200	Weak transcription	GM12878-XiMat	blood
15	chr5:108367000-108387000	Weak transcription	Left Ventricle	heart
16	chr5:108368800-108387400	Weak transcription	Pancreas	Pancrea
17	chr5:108371200-108387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:108371600-108387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:108372600-108389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:108372800-108385200	Weak transcription	NHDF-Ad	bronchial
21	chr5:108373000-108385000	Weak transcription	Lung	lung
22	chr5:108373600-108387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:108374000-108388600	Weak transcription	Fetal Kidney	kidney
24	chr5:108374000-108388800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:108374800-108390000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:108376000-108390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:108376400-108389000	Weak transcription	Primary T cells from cord blood	blood
28	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:108377400-108389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:108380000-108387000	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:108380000-108389200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:108380400-108389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:108381000-108388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:108381000-108389400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:108381400-108387200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:108381400-108387400	Weak transcription	Right Ventricle	heart
39	chr5:108381400-108387400	Weak transcription	Dnd41	blood
40	chr5:108381400-108387600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:108381400-108389800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:108381600-108384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:108381600-108384800	Weak transcription	NHLF	lung
44	chr5:108381600-108385000	Weak transcription	Osteobl	bone
45	chr5:108381600-108387200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:108381600-108387200	Weak transcription	Ovary	ovary
47	chr5:108381800-108385000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:108381800-108387200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:108381800-108387400	Weak transcription	Adipose Nuclei	Adipose
50	chr5:108381800-108388600	Weak transcription	Primary B cells from peripheral blood	blood

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