Variant report

Variant	rs7719293
Chromosome Location	chr5:96343766-96343767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10491385	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10491386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10515253	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1057808	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17409040	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17446635	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17446755	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17446769	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17446837	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17446907	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17446949	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17486915	0.83[AMR][1000 genomes]
rs17487132	0.87[EUR][1000 genomes]
rs17487596	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17531068	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17531164	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17531192	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17531213	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17531366	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17628359	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17684739	0.87[EUR][1000 genomes]
rs41276279	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55658367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55769558	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56002769	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56003936	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56009267	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56071818	0.90[EUR][1000 genomes]
rs56078010	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304800-96346600	Weak transcription	Lung	lung
2	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
3	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
4	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
5	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
6	chr5:96314400-96343800	Strong transcription	Dnd41	blood
7	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
10	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:96316400-96346600	Weak transcription	NH-A	brain
13	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:96321200-96344600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:96321600-96344800	Weak transcription	Small Intestine	intestine
16	chr5:96322200-96348600	Weak transcription	Fetal Kidney	kidney
17	chr5:96322200-96349800	Weak transcription	Psoas Muscle	Psoas
18	chr5:96322400-96353600	Weak transcription	Right Ventricle	heart
19	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:96322400-96359600	Weak transcription	Gastric	stomach
21	chr5:96326400-96346600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:96329800-96358800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:96330000-96359800	Weak transcription	Aorta	Aorta
24	chr5:96330400-96359400	Weak transcription	Fetal Brain Female	brain
25	chr5:96330600-96353600	Weak transcription	Esophagus	oesophagus
26	chr5:96331600-96344600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:96331600-96356200	Weak transcription	Fetal Stomach	stomach
28	chr5:96331600-96357800	Weak transcription	Spleen	Spleen
29	chr5:96331800-96349800	Weak transcription	HSMM	muscle
30	chr5:96333400-96344600	Strong transcription	GM12878-XiMat	blood
31	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:96333800-96344000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
34	chr5:96334400-96346400	Weak transcription	HMEC	breast
35	chr5:96334800-96351800	Weak transcription	A549	lung
36	chr5:96335000-96344800	Weak transcription	Fetal Heart	heart
37	chr5:96335800-96359600	Weak transcription	Stomach Mucosa	stomach
38	chr5:96336000-96352400	Weak transcription	NHEK	skin
39	chr5:96336200-96357800	Weak transcription	Fetal Intestine Small	intestine
40	chr5:96336600-96355400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:96336600-96359400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:96336600-96359400	Weak transcription	Colonic Mucosa	Colon
43	chr5:96336800-96349400	Weak transcription	NHLF	lung
44	chr5:96336800-96350200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:96336800-96350600	Weak transcription	HSMMtube	muscle
46	chr5:96336800-96355200	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:96337000-96344800	Weak transcription	K562	blood
48	chr5:96337000-96349800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:96337600-96355200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:96338600-96344400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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