Variant report

Variant	rs2668759
Chromosome Location	chr18:44693711-44693712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44693298..44695901-chr18:44700902..44702609,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12953864	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12968552	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381713	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1434529	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1512238	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16954921	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16954999	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1836259	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289133	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2571002	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2571004	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571005	0.92[EUR][1000 genomes]
rs2571006	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571007	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2571008	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2571010	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2571017	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2576052	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2576057	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2576058	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2635051	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2635052	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2635054	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2635056	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668758	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668761	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2668762	0.87[EUR][1000 genomes]
rs2668763	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2668784	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2684819	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2684833	0.92[EUR][1000 genomes]
rs2684851	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28718304	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55730206	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7239323	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8085634	0.88[EUR][1000 genomes]
rs9953157	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9956809	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9961383	0.91[AFR][1000 genomes];0.89[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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677600-44700200	Weak transcription	Aorta	Aorta
2	chr18:44677800-44698200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:44677800-44699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr18:44677800-44700400	Weak transcription	Spleen	Spleen
5	chr18:44677800-44701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:44677800-44701000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:44677800-44701000	Weak transcription	A549	lung
8	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
9	chr18:44678000-44699600	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:44678000-44700400	Weak transcription	Small Intestine	intestine
11	chr18:44678000-44700800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr18:44678000-44701000	Weak transcription	Fetal Stomach	stomach
13	chr18:44678200-44700200	Weak transcription	Brain Angular Gyrus	brain
14	chr18:44678200-44700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:44678200-44701000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:44678400-44695400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:44678400-44700000	Weak transcription	Psoas Muscle	Psoas
20	chr18:44678400-44700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:44678400-44700800	Weak transcription	Lung	lung
22	chr18:44678600-44699000	Weak transcription	Dnd41	blood
23	chr18:44681200-44699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:44681200-44699600	Weak transcription	Fetal Muscle Leg	muscle
25	chr18:44681200-44699600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:44681200-44699800	Weak transcription	Left Ventricle	heart
27	chr18:44681400-44699600	Weak transcription	Primary T cells from cord blood	blood
28	chr18:44681600-44700200	Weak transcription	Fetal Kidney	kidney
29	chr18:44681800-44699400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:44681800-44699800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:44681800-44700200	Weak transcription	HSMM	muscle
32	chr18:44681800-44700800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr18:44681800-44700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:44681800-44700800	Weak transcription	Placenta	Placenta
35	chr18:44681800-44701000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr18:44681800-44701000	Weak transcription	Fetal Thymus	thymus
37	chr18:44681800-44701200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr18:44682400-44700200	Weak transcription	Liver	Liver
39	chr18:44682400-44701000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:44682600-44698800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:44682800-44697800	Weak transcription	HUVEC	blood vessel
42	chr18:44683000-44699600	Weak transcription	Adipose Nuclei	Adipose
43	chr18:44683000-44700000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:44683000-44700800	Weak transcription	Fetal Intestine Large	intestine
45	chr18:44683000-44700800	Weak transcription	NH-A	brain
46	chr18:44683000-44701000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr18:44683000-44701200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr18:44685200-44700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:44685800-44700400	Weak transcription	Hela-S3	cervix
50	chr18:44686800-44701200	Weak transcription	H9 Cell Line	embryonic stem cell

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