Variant report

Variant	rs11949648
Chromosome Location	chr5:108362074-108362075
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10491333	1.00[MEX][hapmap]
rs11948684	0.93[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs11948881	1.00[CEU][hapmap];0.84[LWK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs11949066	0.86[EUR][1000 genomes]
rs11949367	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11949510	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11949619	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11949706	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11951595	0.93[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs11951971	0.98[EUR][1000 genomes]
rs11951974	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952227	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11952572	0.86[EUR][1000 genomes]
rs11953136	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953486	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11954716	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11954988	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955886	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956908	0.93[EUR][1000 genomes]
rs11957358	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11958129	0.93[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs11958918	1.00[CEU][hapmap];0.88[LWK][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs11959492	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11959577	0.95[EUR][1000 genomes]
rs11959681	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs17534354	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17534438	1.00[MEX][hapmap]
rs34412145	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34679271	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3822684	0.93[LWK][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs3851457	1.00[CEU][hapmap];0.88[LWK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs3851458	0.93[EUR][1000 genomes]
rs56381733	0.82[EUR][1000 genomes]
rs57221554	0.90[AFR][1000 genomes]
rs57404758	0.87[EUR][1000 genomes]
rs57622369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58499805	0.88[AFR][1000 genomes]
rs59055229	0.82[EUR][1000 genomes]
rs59216020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60946864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67338203	0.82[EUR][1000 genomes]
rs72787096	0.88[EUR][1000 genomes]
rs72787098	0.88[EUR][1000 genomes]
rs72787099	0.87[EUR][1000 genomes]
rs72787100	0.88[EUR][1000 genomes]
rs72787101	0.88[EUR][1000 genomes]
rs72787102	0.88[EUR][1000 genomes]
rs72789304	0.88[EUR][1000 genomes]
rs72789305	0.87[EUR][1000 genomes]
rs72789306	0.88[EUR][1000 genomes]
rs72789307	0.88[EUR][1000 genomes]
rs72789308	0.88[EUR][1000 genomes]
rs72789309	0.88[EUR][1000 genomes]
rs72789312	0.91[EUR][1000 genomes]
rs72789313	0.91[EUR][1000 genomes]
rs72789315	0.92[EUR][1000 genomes]
rs72789316	0.93[EUR][1000 genomes]
rs72789319	0.93[EUR][1000 genomes]
rs72789320	0.92[EUR][1000 genomes]
rs72789326	0.93[EUR][1000 genomes]
rs72789332	0.93[EUR][1000 genomes]
rs72789333	0.92[EUR][1000 genomes]
rs72789335	0.93[EUR][1000 genomes]
rs72789341	0.93[EUR][1000 genomes]
rs72789345	0.93[EUR][1000 genomes]
rs72789347	0.93[EUR][1000 genomes]
rs72789348	0.93[EUR][1000 genomes]
rs72789350	0.93[EUR][1000 genomes]
rs72789352	0.92[EUR][1000 genomes]
rs72790510	0.93[EUR][1000 genomes]
rs72790512	0.93[EUR][1000 genomes]
rs72790514	0.93[EUR][1000 genomes]
rs72790515	0.93[EUR][1000 genomes]
rs72790520	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790521	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790524	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790525	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790528	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790542	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790545	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790546	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72790559	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790562	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790565	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790567	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790568	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790574	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790577	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790579	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72790585	0.82[EUR][1000 genomes]
rs72793918	0.84[EUR][1000 genomes]
rs72793920	0.84[EUR][1000 genomes]
rs72793922	0.84[EUR][1000 genomes]
rs72793923	0.84[EUR][1000 genomes]
rs72793926	0.88[EUR][1000 genomes]
rs72793927	0.88[EUR][1000 genomes]
rs72793933	0.88[EUR][1000 genomes]
rs73780406	0.88[AFR][1000 genomes]
rs7734904	1.00[CEU][hapmap];0.81[LWK][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs7735425	0.88[EUR][1000 genomes]
rs919771	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.95[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	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108352400-108365000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:108352400-108381400	Weak transcription	Fetal Lung	lung
4	chr5:108355200-108363800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:108356000-108399000	Weak transcription	HSMM	muscle
6	chr5:108356400-108364200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:108358000-108366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:108358400-108366600	Weak transcription	Esophagus	oesophagus
10	chr5:108359200-108363600	Weak transcription	NHDF-Ad	bronchial
11	chr5:108360200-108364000	Weak transcription	HepG2	liver
12	chr5:108360200-108364200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:108360200-108374000	Weak transcription	HUVEC	blood vessel
14	chr5:108360400-108362800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:108360400-108362800	Weak transcription	Lung	lung
16	chr5:108360400-108363200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:108360400-108364200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:108360400-108364200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:108360400-108364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:108360400-108366000	Weak transcription	Fetal Heart	heart
21	chr5:108360400-108366200	Weak transcription	Left Ventricle	heart
22	chr5:108360400-108366600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:108360400-108367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:108360400-108369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:108360400-108371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:108360400-108373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:108360400-108381200	Weak transcription	Adipose Nuclei	Adipose
28	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
31	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:108360400-108400400	Weak transcription	NHEK	skin
34	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
36	chr5:108360600-108363200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:108360600-108364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:108360600-108365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:108360600-108366200	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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