Variant report

Variant	rs62086121
Chromosome Location	chr18:9483534-9483535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9481576..9484213-chr18:9511203..9515144,3	K562	blood:
2	chr18:9483035..9485149-chr18:9487383..9490221,2	K562	blood:
3	chr18:9474434..9478546-chr18:9481264..9484855,5	MCF-7	breast:
4	chr18:9475346..9479784-chr18:9480554..9484276,7	K562	blood:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs2277709	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2840354	0.83[ASN][1000 genomes]
rs3786174	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57539299	0.83[ASN][1000 genomes]
rs58982927	0.83[ASN][1000 genomes]
rs59114729	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59992205	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60290408	0.81[ASN][1000 genomes]
rs61166388	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086114	1.00[ASN][1000 genomes]
rs62086115	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086118	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086119	1.00[ASN][1000 genomes]
rs62086120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086146	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086147	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086151	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086152	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086155	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086156	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086158	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086159	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087363	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087368	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087370	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087371	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087372	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087378	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087402	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087403	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087404	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087406	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087407	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087411	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087412	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087414	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087415	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087416	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087417	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087427	0.81[ASN][1000 genomes]
rs7237018	0.83[ASN][1000 genomes]
rs72636719	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73393877	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393880	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395717	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395719	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894757	0.96[EUR][1000 genomes];0.93[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476600-9484200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:9476800-9494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
4	chr18:9477000-9483600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:9477000-9485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:9477000-9486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:9477000-9489800	Weak transcription	HUVEC	blood vessel
8	chr18:9477000-9514000	Weak transcription	NH-A	brain
9	chr18:9477200-9484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:9477200-9513800	Weak transcription	HSMM	muscle
11	chr18:9477400-9485000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr18:9477400-9492400	Weak transcription	A549	lung
13	chr18:9477400-9493600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr18:9477600-9484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9477600-9484600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9477600-9485000	Weak transcription	Liver	Liver
17	chr18:9477600-9485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:9477600-9488000	Weak transcription	HepG2	liver
19	chr18:9477600-9491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr18:9477800-9484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr18:9477800-9488600	Weak transcription	Fetal Lung	lung
23	chr18:9477800-9494800	Weak transcription	HMEC	breast
24	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
25	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:9478000-9484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr18:9478000-9485000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
31	chr18:9478400-9483600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:9478800-9484000	Weak transcription	Colonic Mucosa	Colon
33	chr18:9479000-9485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:9479000-9494000	Weak transcription	Spleen	Spleen
35	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
39	chr18:9479000-9533600	Weak transcription	Gastric	stomach
40	chr18:9479200-9492000	Weak transcription	NHEK	skin
41	chr18:9479400-9487000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:9479400-9494000	Weak transcription	Ovary	ovary
43	chr18:9479400-9494600	Weak transcription	Thymus	Thymus
44	chr18:9479600-9483600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:9479600-9483600	Weak transcription	Fetal Intestine Large	intestine
46	chr18:9479600-9484800	Weak transcription	Fetal Brain Female	brain
47	chr18:9479600-9485400	Weak transcription	Fetal Thymus	thymus
48	chr18:9479600-9487400	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:9480000-9484000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:9480200-9490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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