Variant report

Variant	rs62086151
Chromosome Location	chr18:9496454-9496455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9491518..9493639-chr18:9496190..9498426,2	K562	blood:
2	chr18:9494936..9496887-chr18:9498757..9501330,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1036930	0.83[ASN][1000 genomes]
rs12327541	0.83[ASN][1000 genomes]
rs16955156	0.94[AFR][1000 genomes]
rs16955297	0.83[ASN][1000 genomes]
rs1942150	0.81[ASN][1000 genomes]
rs2028657	0.83[ASN][1000 genomes]
rs2028659	0.81[ASN][1000 genomes]
rs2277709	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2840354	0.90[ASN][1000 genomes]
rs35234665	0.81[ASN][1000 genomes]
rs35911400	0.81[ASN][1000 genomes]
rs3786174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841197	0.83[ASN][1000 genomes]
rs56883068	0.83[ASN][1000 genomes]
rs57025551	0.81[ASN][1000 genomes]
rs57539299	0.90[ASN][1000 genomes]
rs58982927	0.90[ASN][1000 genomes]
rs59114729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59992205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60290408	0.87[ASN][1000 genomes]
rs61166388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61428228	0.93[AFR][1000 genomes]
rs62086114	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086115	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086118	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086119	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086120	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086121	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086147	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086152	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086155	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086156	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086158	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087364	0.81[ASN][1000 genomes]
rs62087368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087370	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087371	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087372	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62087378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087417	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087427	0.87[ASN][1000 genomes]
rs62087456	0.83[ASN][1000 genomes]
rs62088860	0.83[ASN][1000 genomes]
rs62088870	0.83[ASN][1000 genomes]
rs62088872	0.83[ASN][1000 genomes]
rs62088873	0.83[ASN][1000 genomes]
rs62088875	0.83[ASN][1000 genomes]
rs62088876	0.83[ASN][1000 genomes]
rs6506677	0.83[ASN][1000 genomes]
rs7233308	0.83[ASN][1000 genomes]
rs7234355	0.83[ASN][1000 genomes]
rs7237018	0.90[ASN][1000 genomes]
rs7238137	0.83[ASN][1000 genomes]
rs7238375	0.81[ASN][1000 genomes]
rs7240572	0.81[ASN][1000 genomes]
rs7241781	0.81[ASN][1000 genomes]
rs72636719	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73393877	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73393880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393885	0.93[AFR][1000 genomes]
rs73395717	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099027	0.81[ASN][1000 genomes]
rs894757	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946939	0.81[ASN][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9477000-9514000	Weak transcription	NH-A	brain
2	chr18:9477200-9513800	Weak transcription	HSMM	muscle
3	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
4	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
8	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
12	chr18:9479000-9533600	Weak transcription	Gastric	stomach
13	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:9483400-9498000	Weak transcription	Dnd41	blood
16	chr18:9489200-9500400	Weak transcription	Primary B cells from cord blood	blood
17	chr18:9492400-9501400	Weak transcription	Fetal Thymus	thymus
18	chr18:9492600-9497400	Weak transcription	Fetal Intestine Large	intestine
19	chr18:9492600-9499000	Weak transcription	Fetal Intestine Small	intestine
20	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:9492800-9503400	Weak transcription	A549	lung
22	chr18:9493000-9499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:9493000-9500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:9493600-9496800	Weak transcription	Fetal Stomach	stomach
25	chr18:9493800-9496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr18:9493800-9496800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr18:9493800-9496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:9493800-9506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:9494000-9497600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:9494000-9497600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr18:9494000-9497600	Enhancers	Placenta	Placenta
32	chr18:9494200-9501800	Weak transcription	Fetal Lung	lung
33	chr18:9494400-9496600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:9494600-9500200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr18:9494800-9496800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:9494800-9501400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:9494800-9501600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:9495000-9496800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr18:9495000-9497800	Strong transcription	Primary T cells from cord blood	blood
40	chr18:9495000-9498000	Weak transcription	K562	blood
41	chr18:9495000-9499600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:9495000-9501400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr18:9495000-9502600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:9495000-9503000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr18:9495000-9506000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr18:9495000-9507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:9495000-9518000	Weak transcription	Liver	Liver
48	chr18:9495000-9518000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr18:9495200-9496600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:9495200-9496800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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