Variant report

Variant	rs16958498
Chromosome Location	chr18:45360111-45360112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45356981..45360648-chr18:45361915..45364207,3	K562	blood:
2	chr18:45356981..45361316-chr18:45361915..45364794,4	K562	blood:
3	chr18:45355527..45357480-chr18:45358347..45361404,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958447	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16958453	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16958460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958495	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16958497	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958499	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958520	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958530	1.00[AMR][1000 genomes]
rs16958543	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958545	1.00[EUR][1000 genomes]
rs16958551	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958553	1.00[GIH][hapmap]
rs16958554	1.00[EUR][1000 genomes]
rs16958557	1.00[EUR][1000 genomes]
rs16958568	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16958574	1.00[EUR][1000 genomes]
rs16958577	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958585	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958599	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958615	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958635	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958643	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs17815568	1.00[ASW][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs1970666	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7232994	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes]
rs8084846	1.00[EUR][1000 genomes]
rs948599	1.00[EUR][1000 genomes]

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	nsv1057722	chr18:45343965-45401360	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1058673	chr18:45360012-45404492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45335400-45365600	Weak transcription	Gastric	stomach
2	chr18:45340400-45369400	Weak transcription	Fetal Stomach	stomach
3	chr18:45341000-45364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:45342400-45365400	Weak transcription	Psoas Muscle	Psoas
6	chr18:45344000-45361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:45344000-45373000	Weak transcription	Pancreas	Pancrea
8	chr18:45344200-45364800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:45344200-45364800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr18:45344400-45365400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:45344400-45365600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:45344600-45365400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:45344600-45368000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:45344800-45362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:45345000-45368000	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:45345200-45365400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:45345400-45363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:45346400-45365600	Weak transcription	Esophagus	oesophagus
20	chr18:45346600-45361400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
22	chr18:45348200-45366200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr18:45348400-45365600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr18:45348400-45365600	Weak transcription	NHEK	skin
25	chr18:45348800-45362400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:45349400-45361400	Weak transcription	HMEC	breast
27	chr18:45349800-45365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:45350000-45364000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:45350000-45365400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:45350200-45363000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr18:45350400-45362400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:45350400-45364000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr18:45350800-45365000	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:45350800-45365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:45350800-45367600	Weak transcription	K562	blood
36	chr18:45351000-45365600	Weak transcription	Brain Substantia Nigra	brain
37	chr18:45351000-45374600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:45351200-45362600	Weak transcription	Liver	Liver
39	chr18:45351600-45365800	Weak transcription	Brain Anterior Caudate	brain
40	chr18:45351800-45367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:45352000-45364600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr18:45352000-45365400	Weak transcription	Lung	lung
43	chr18:45352200-45362400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:45352400-45365400	Weak transcription	Left Ventricle	heart
45	chr18:45352400-45365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr18:45352800-45365000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:45353000-45363000	Weak transcription	Fetal Lung	lung
48	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:45353200-45365600	Weak transcription	Fetal Brain Female	brain
50	chr18:45353200-45365600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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