Variant report

Variant	rs59519484
Chromosome Location	chr4:106190732-106190733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106069706..106072401-chr4:106190053..106191894,2	K562	blood:
2	chr4:106189275..106190947-chr4:106192972..106194915,2	MCF-7	breast:
3	chr4:106066947..106069360-chr4:106190200..106191971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57520418	0.83[AFR][1000 genomes]
rs58322634	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59479204	0.93[AFR][1000 genomes]
rs60382101	0.93[AFR][1000 genomes]
rs72950501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952305	0.83[AFR][1000 genomes]
rs72955179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955180	0.93[AFR][1000 genomes]
rs72955193	0.93[AFR][1000 genomes]
rs72961198	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961199	0.93[AFR][1000 genomes]
rs72963014	0.93[AFR][1000 genomes]
rs72963031	0.93[AFR][1000 genomes]
rs72963032	0.93[AFR][1000 genomes]
rs72963036	0.96[AFR][1000 genomes]
rs72963038	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr4:106142000-106190800	Weak transcription	Small Intestine	intestine
3	chr4:106148000-106192800	Weak transcription	Psoas Muscle	Psoas
4	chr4:106150200-106191400	Weak transcription	HUVEC	blood vessel
5	chr4:106154000-106198800	Weak transcription	Hela-S3	cervix
6	chr4:106156800-106190800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:106156800-106196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:106157400-106193600	Weak transcription	Colonic Mucosa	Colon
9	chr4:106158200-106190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:106158200-106190800	Weak transcription	Pancreas	Pancrea
11	chr4:106158200-106190800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:106158200-106190800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:106158400-106190800	Weak transcription	Gastric	stomach
14	chr4:106158400-106190800	Weak transcription	Lung	lung
15	chr4:106162800-106190800	Weak transcription	Fetal Heart	heart
16	chr4:106163400-106196400	Weak transcription	Brain Angular Gyrus	brain
17	chr4:106163600-106190800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:106165200-106190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:106165400-106190800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:106167400-106193400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:106168000-106190800	Weak transcription	Aorta	Aorta
22	chr4:106168600-106193400	Weak transcription	NHDF-Ad	bronchial
23	chr4:106172000-106190800	Weak transcription	Esophagus	oesophagus
24	chr4:106176000-106193200	Weak transcription	Right Ventricle	heart
25	chr4:106176400-106190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:106176600-106191200	Weak transcription	HMEC	breast
27	chr4:106176800-106190800	Weak transcription	Fetal Brain Male	brain
28	chr4:106178000-106201000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:106178600-106190800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:106179200-106201000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:106180200-106199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:106180400-106198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:106181000-106190800	Weak transcription	HepG2	liver
34	chr4:106181000-106196800	Weak transcription	A549	lung
35	chr4:106181400-106191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:106182200-106190800	Weak transcription	Fetal Kidney	kidney
37	chr4:106182200-106191200	Weak transcription	K562	blood
38	chr4:106182400-106190800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:106183000-106190800	Weak transcription	Brain Substantia Nigra	brain
40	chr4:106183600-106190800	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:106185200-106190800	Weak transcription	Left Ventricle	heart
42	chr4:106185200-106190800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:106185200-106190800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:106185600-106190800	Weak transcription	Thymus	Thymus
45	chr4:106186800-106190800	Weak transcription	HSMM	muscle
46	chr4:106187200-106202000	Weak transcription	Stomach Mucosa	stomach
47	chr4:106187400-106190800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:106188800-106199800	Strong transcription	GM12878-XiMat	blood
49	chr4:106189000-106190800	Weak transcription	Spleen	Spleen
50	chr4:106189200-106197800	Strong transcription	Primary B cells from peripheral blood	blood

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