Variant report

Variant	rs10169592
Chromosome Location	chr2:11828018-11828019
allele	A/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
2	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
3	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
4	chr2:11634107..11636070-chr2:11826833..11828580,2	MCF-7	breast:
5	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
6	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
7	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
8	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
9	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
10	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
11	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
12	chr2:11821199..11824708-chr2:11826185..11828507,3	K562	blood:
13	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction
ENSG00000228496	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10180912	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11884930	0.82[EUR][1000 genomes]
rs4328604	0.81[EUR][1000 genomes]
rs4389306	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432227	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432228	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432230	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6432231	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597788	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7598716	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
2	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11822600-11828200	Weak transcription	Pancreas	Pancrea
5	chr2:11823000-11828200	Weak transcription	Psoas Muscle	Psoas
6	chr2:11824200-11828200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:11824200-11828200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:11827400-11828200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:11827400-11828200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:11827600-11828400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:11827600-11829400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:11827800-11828200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:11827800-11828200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:11827800-11828200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:11827800-11828200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11827800-11828200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:11827800-11828200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:11827800-11828400	Enhancers	Adipose Nuclei	Adipose
19	chr2:11827800-11828400	Enhancers	Brain Hippocampus Middle	brain
20	chr2:11827800-11828400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:11827800-11828400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:11827800-11828400	Enhancers	Fetal Heart	heart
23	chr2:11827800-11828400	Enhancers	Left Ventricle	heart
24	chr2:11827800-11828400	Enhancers	Ovary	ovary
25	chr2:11827800-11828400	Enhancers	Right Ventricle	heart
26	chr2:11827800-11828400	Flanking Active TSS	Hela-S3	cervix
27	chr2:11827800-11828400	Enhancers	HMEC	breast
28	chr2:11827800-11828400	Enhancers	HSMMtube	muscle
29	chr2:11827800-11828800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:11827800-11828800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:11827800-11829000	Enhancers	Brain Angular Gyrus	brain
32	chr2:11827800-11829000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr2:11827800-11829200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:11827800-11829200	Enhancers	Placenta	Placenta
35	chr2:11827800-11829400	Enhancers	Brain Substantia Nigra	brain
36	chr2:11827800-11829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr2:11828000-11828200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr2:11828000-11828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:11828000-11828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:11828000-11828200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:11828000-11828200	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:11828000-11828200	Bivalent Enhancer	A549	lung
43	chr2:11828000-11828400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:11828000-11828400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:11828000-11828400	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:11828000-11828400	Enhancers	NHDF-Ad	bronchial
47	chr2:11828000-11828400	Bivalent Enhancer	NHEK	skin
48	chr2:11828000-11828600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:11828000-11828600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:11828000-11828600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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