Variant report

Variant	rs249018
Chromosome Location	chr5:79757716-79757717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10433	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1097309	0.81[AFR][1000 genomes]
rs1102116	0.85[AFR][1000 genomes]
rs1363775	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs168939	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs174075	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs185100	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs187479	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs194540	0.86[EUR][1000 genomes]
rs249015	0.92[AFR][1000 genomes]
rs249019	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs249020	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs249021	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249024	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs249025	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249026	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs249027	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249028	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249029	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs249031	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs249033	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs249037	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs249039	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249040	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2544599	0.82[AFR][1000 genomes]
rs2544600	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2544603	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs259032	0.86[AFR][1000 genomes]
rs259033	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs259034	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2599508	0.83[AFR][1000 genomes]
rs3095850	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3095851	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs394076	0.85[AFR][1000 genomes]
rs394170	0.83[AFR][1000 genomes]
rs399261	0.85[AFR][1000 genomes]
rs401612	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs408899	0.85[AFR][1000 genomes]
rs863163	0.85[AFR][1000 genomes]
rs969567	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79704600-79758000	Weak transcription	Spleen	Spleen
2	chr5:79704600-79758600	Weak transcription	Gastric	stomach
3	chr5:79722600-79765400	Weak transcription	Fetal Brain Male	brain
4	chr5:79730200-79761400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:79730200-79762200	Weak transcription	Stomach Mucosa	stomach
6	chr5:79730600-79762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:79731400-79768000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:79731600-79758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:79732200-79757800	Weak transcription	NHEK	skin
10	chr5:79732200-79758600	Weak transcription	Esophagus	oesophagus
11	chr5:79732200-79766200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:79732400-79758200	Weak transcription	Small Intestine	intestine
13	chr5:79733400-79782600	Weak transcription	NHLF	lung
14	chr5:79735000-79758600	Weak transcription	K562	blood
15	chr5:79736400-79759600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:79738000-79761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:79738800-79758600	Strong transcription	Liver	Liver
18	chr5:79739800-79758000	Weak transcription	Thymus	Thymus
19	chr5:79739800-79760000	Weak transcription	Right Ventricle	heart
20	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
21	chr5:79747000-79758000	Weak transcription	Pancreas	Pancrea
22	chr5:79747600-79758400	Weak transcription	HSMMtube	muscle
23	chr5:79748000-79758400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:79748000-79758800	Weak transcription	Hela-S3	cervix
25	chr5:79748000-79760000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:79748400-79758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:79748800-79758800	Weak transcription	HepG2	liver
28	chr5:79750800-79759000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:79751400-79757800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:79751400-79762000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:79751600-79758200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:79751600-79759400	Strong transcription	Adipose Nuclei	Adipose
33	chr5:79751600-79763600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:79751600-79763600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:79751800-79758000	Strong transcription	HSMM	muscle
36	chr5:79751800-79759600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:79751800-79761400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:79751800-79761600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:79751800-79766400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:79752000-79758200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:79752600-79758000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:79752800-79758600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:79752800-79758800	Strong transcription	Fetal Intestine Large	intestine
44	chr5:79753000-79765000	Weak transcription	Psoas Muscle	Psoas
45	chr5:79753400-79757800	Weak transcription	Brain Germinal Matrix	brain
46	chr5:79753400-79758000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:79753400-79758200	Weak transcription	Brain Angular Gyrus	brain
48	chr5:79753400-79758200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:79753400-79759200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:79753400-79769600	Weak transcription	HUVEC	blood vessel

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