Variant report

Variant	rs62086120
Chromosome Location	chr18:9482636-9482637
allele	C/T
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	chr18:9474434..9478546-chr18:9481264..9484855,5	MCF-7	breast:
3	chr18:9480776..9482836-chr18:9514325..9515970,2	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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2277709	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2840354	0.83[ASN][1000 genomes]
rs3786174	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57539299	0.83[ASN][1000 genomes]
rs58982927	0.83[ASN][1000 genomes]
rs59114729	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59992205	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60290408	0.81[ASN][1000 genomes]
rs61166388	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086114	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086115	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086119	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086121	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086146	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086147	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086151	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086152	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086155	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086156	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086158	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086159	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087363	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087368	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087370	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087371	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087372	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087402	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087403	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087404	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087406	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087407	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087411	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087412	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087414	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087415	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087416	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087417	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087427	0.81[ASN][1000 genomes]
rs7237018	0.83[ASN][1000 genomes]
rs72636719	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73393856	0.85[AFR][1000 genomes]
rs73393877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393880	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395717	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73395719	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894757	1.00[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:100 , 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	chr18:9477000-9482800	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:9477000-9483600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:9477000-9485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:9477000-9486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:9477000-9489800	Weak transcription	HUVEC	blood vessel
9	chr18:9477000-9514000	Weak transcription	NH-A	brain
10	chr18:9477200-9484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:9477200-9513800	Weak transcription	HSMM	muscle
12	chr18:9477400-9485000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr18:9477400-9492400	Weak transcription	A549	lung
14	chr18:9477400-9493600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:9477600-9482800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:9477600-9484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:9477600-9484600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:9477600-9485000	Weak transcription	Liver	Liver
19	chr18:9477600-9485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:9477600-9488000	Weak transcription	HepG2	liver
21	chr18:9477600-9491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:9477800-9484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr18:9477800-9488600	Weak transcription	Fetal Lung	lung
25	chr18:9477800-9494800	Weak transcription	HMEC	breast
26	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
27	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:9478000-9482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:9478000-9484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:9478000-9485000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
34	chr18:9478200-9483400	Strong transcription	Dnd41	blood
35	chr18:9478400-9483600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:9478800-9483400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:9478800-9484000	Weak transcription	Colonic Mucosa	Colon
38	chr18:9479000-9482800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:9479000-9482800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:9479000-9482800	Weak transcription	Esophagus	oesophagus
41	chr18:9479000-9485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:9479000-9494000	Weak transcription	Spleen	Spleen
43	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
47	chr18:9479000-9533600	Weak transcription	Gastric	stomach
48	chr18:9479200-9492000	Weak transcription	NHEK	skin
49	chr18:9479400-9487000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr18:9479400-9494000	Weak transcription	Ovary	ovary

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