Variant report

Variant	rs4775990
Chromosome Location	chr15:52264936-52264937
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52261233..52265470-chr15:52469433..52474401,7	MCF-7	breast:
2	chr15:52243665..52246508-chr15:52262168..52265352,3	MCF-7	breast:
3	chr15:52262145..52266701-chr15:52309209..52314377,19	MCF-7	breast:
4	chr15:52263277..52265007-chr15:52427883..52430038,2	MCF-7	breast:
5	chr15:52262628..52265811-chr15:52469801..52473537,4	MCF-7	breast:
6	chr15:52262398..52265193-chr15:52386264..52389426,3	MCF-7	breast:
7	chr15:52263208..52265625-chr15:52404085..52407650,4	MCF-7	breast:
8	chr15:52262270..52265607-chr15:52309730..52314612,10	K562	blood:
9	chr15:52244109..52249001-chr15:52262072..52265545,5	MCF-7	breast:
10	chr15:52264141..52265648-chr15:52426026..52428333,2	MCF-7	breast:
11	chr15:52262830..52265268-chr15:52372078..52374982,4	MCF-7	breast:
12	chr15:52073675..52076293-chr15:52262420..52265302,2	MCF-7	breast:
13	chr15:52259207..52267788-chr15:52308373..52314434,24	MCF-7	breast:
14	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
15	chr15:52264304..52267297-chr15:52410135..52412517,2	MCF-7	breast:
16	chr15:52262407..52265136-chr15:52430706..52432521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259577	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000259178	Chromatin interaction
ENSG00000137875	Chromatin interaction
ENSG00000242327	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1025185	0.91[AMR][1000 genomes]
rs17649255	0.82[AMR][1000 genomes]
rs17649801	0.85[AMR][1000 genomes]
rs17649820	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17649826	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250797	0.81[AMR][1000 genomes]
rs2593196	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35487339	0.81[AMR][1000 genomes]
rs4775989	0.85[AMR][1000 genomes]
rs7170429	0.82[AMR][1000 genomes]
rs7170700	0.82[AMR][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	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv569410	chr15:52257874-52273132	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52262200-52265000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:52262400-52265000	Active TSS	HSMM	muscle
3	chr15:52263200-52265000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:52263400-52265000	Active TSS	Fetal Brain Female	brain
5	chr15:52264000-52265400	Active TSS	HepG2	liver
6	chr15:52264600-52265000	Enhancers	Primary B cells from peripheral blood	blood
7	chr15:52264600-52265000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:52264600-52265000	Enhancers	Fetal Stomach	stomach
9	chr15:52264600-52265200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:52264600-52265200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:52264600-52265200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:52264600-52265200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:52264600-52265600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:52264600-52265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:52264600-52265800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:52264600-52266000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:52264600-52266000	Enhancers	Placenta	Placenta
18	chr15:52264600-52266400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:52264600-52273000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:52264600-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:52264600-52273000	Weak transcription	Liver	Liver
22	chr15:52264600-52273000	Weak transcription	Right Ventricle	heart
23	chr15:52264600-52273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:52264600-52273600	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:52264600-52273600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:52264600-52273600	Weak transcription	Stomach Mucosa	stomach
27	chr15:52264600-52273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:52264600-52273800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:52264600-52273800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:52264600-52273800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:52264600-52273800	Weak transcription	Brain Substantia Nigra	brain
32	chr15:52264600-52273800	Weak transcription	Thymus	Thymus
33	chr15:52264600-52274000	Weak transcription	Colonic Mucosa	Colon
34	chr15:52264600-52274200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:52264600-52274400	Weak transcription	Pancreas	Pancrea
36	chr15:52264800-52265000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:52264800-52265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:52264800-52265000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:52264800-52265000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:52264800-52265000	Enhancers	Fetal Muscle Trunk	muscle
41	chr15:52264800-52265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:52264800-52265200	Enhancers	Primary T cells from cord blood	blood
43	chr15:52264800-52265200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:52264800-52265200	Enhancers	Fetal Thymus	thymus
45	chr15:52264800-52265200	Enhancers	HMEC	breast
46	chr15:52264800-52265400	Weak transcription	HUVEC	blood vessel
47	chr15:52264800-52265600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:52264800-52265600	Enhancers	Dnd41	blood
49	chr15:52264800-52266600	Weak transcription	Brain Germinal Matrix	brain
50	chr15:52264800-52269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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