Variant report

Variant	rs55803452
Chromosome Location	chr4:15692708-15692709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15682774..15685413-chr4:15691736..15693825,4	K562	blood:
2	chr4:15681921..15686275-chr4:15691863..15696153,5	MCF-7	breast:
3	chr4:15656248..15659090-chr4:15690576..15694462,3	MCF-7	breast:
4	chr4:15690253..15693117-chr4:15724608..15727161,2	MCF-7	breast:
5	chr4:15690443..15693747-chr4:15694264..15697002,4	MCF-7	breast:
6	chr4:15691991..15693828-chr4:15939773..15942027,2	MCF-7	breast:
7	chr4:15682706..15688918-chr4:15689234..15693729,6	K562	blood:
8	chr4:15685927..15688320-chr4:15691706..15694352,2	K562	blood:
9	chr4:15680881..15687102-chr4:15687861..15693031,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137440	Chromatin interaction
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16892232	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17385861	0.84[EUR][1000 genomes]
rs17385951	0.84[EUR][1000 genomes]
rs17405797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476879	0.84[EUR][1000 genomes]
rs2302465	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2302469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756245	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3822258	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4279202	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55735476	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55757331	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55784324	0.87[EUR][1000 genomes]
rs55963737	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56065468	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56093715	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56094420	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56149419	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56166932	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73224650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224656	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73224663	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73237171	0.84[EUR][1000 genomes]
rs73237172	0.85[EUR][1000 genomes]
rs73237182	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73237198	0.85[EUR][1000 genomes]
rs73239165	0.85[EUR][1000 genomes]
rs73239167	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73239174	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73239175	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73239182	0.87[EUR][1000 genomes]
rs73239189	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73239191	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73239193	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73241109	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73241111	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73241112	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73241117	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73241120	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241180	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241183	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241185	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241190	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241191	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241195	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241197	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73241198	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73243105	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73243107	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243112	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243114	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243118	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243126	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243128	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243129	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243131	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73243132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73243135	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
3	chr4:15684800-15693600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:15684800-15694200	Weak transcription	Fetal Brain Male	brain
5	chr4:15684800-15704400	Weak transcription	Aorta	Aorta
6	chr4:15685000-15693000	Weak transcription	Psoas Muscle	Psoas
7	chr4:15685000-15695800	Weak transcription	Stomach Mucosa	stomach
8	chr4:15686400-15692800	Weak transcription	GM12878-XiMat	blood
9	chr4:15686600-15704400	Weak transcription	Thymus	Thymus
10	chr4:15687200-15701200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:15687600-15696800	Weak transcription	Fetal Stomach	stomach
12	chr4:15687600-15697000	Weak transcription	Esophagus	oesophagus
13	chr4:15688400-15697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:15688400-15703800	Weak transcription	Fetal Kidney	kidney
15	chr4:15688600-15695600	Weak transcription	Fetal Lung	lung
16	chr4:15689400-15692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:15689400-15693000	Weak transcription	K562	blood
18	chr4:15689400-15693600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:15689600-15692800	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:15689600-15697200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:15690000-15692800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:15690000-15693000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:15690000-15693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:15690200-15695000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:15690400-15694200	Enhancers	Adipose Nuclei	Adipose
26	chr4:15690600-15693600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:15690600-15694600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:15690600-15697800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:15690800-15693200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:15690800-15693600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr4:15690800-15693800	Enhancers	HSMMtube	muscle
32	chr4:15690800-15694000	Enhancers	HMEC	breast
33	chr4:15690800-15694000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr4:15691000-15693200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:15691000-15693800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:15691000-15694400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:15691000-15697000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:15691000-15698600	Weak transcription	Dnd41	blood
39	chr4:15691200-15692800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:15691200-15693000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:15691200-15693000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:15691200-15693200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:15691200-15693200	Enhancers	Hela-S3	cervix
44	chr4:15691200-15694000	Enhancers	HUVEC	blood vessel
45	chr4:15691400-15693200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:15691400-15693200	Enhancers	Brain Substantia Nigra	brain
47	chr4:15691400-15693400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:15691400-15693600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:15691400-15694200	Weak transcription	Fetal Thymus	thymus
50	chr4:15691400-15694600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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