Variant report

Variant	rs28532950
Chromosome Location	chr18:43706491-43706492
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	chr18:43705752..43708889-chr18:43751231..43755049,3	K562	blood:

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11659357	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11659795	0.84[EUR][1000 genomes]
rs11663194	0.83[ASN][1000 genomes]
rs11664314	0.87[ASN][1000 genomes]
rs11664534	0.92[ASN][1000 genomes]
rs11664764	0.85[EUR][1000 genomes]
rs11872954	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11872985	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11874712	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12954405	0.92[ASN][1000 genomes]
rs12954944	0.82[EUR][1000 genomes]
rs12959909	0.92[ASN][1000 genomes]
rs13381709	0.85[EUR][1000 genomes]
rs1800637	0.85[EUR][1000 genomes]
rs1800639	0.85[EUR][1000 genomes]
rs1800640	0.85[EUR][1000 genomes]
rs2298787	0.85[EUR][1000 genomes]
rs28504655	0.83[EUR][1000 genomes]
rs28699609	0.85[EUR][1000 genomes]
rs28757346	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34907121	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36111316	0.92[ASN][1000 genomes]
rs56075249	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56181324	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62096500	0.85[EUR][1000 genomes]
rs71364522	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7230064	0.80[EUR][1000 genomes]
rs7244921	0.84[EUR][1000 genomes]
rs7244950	0.85[EUR][1000 genomes]
rs8083998	0.85[EUR][1000 genomes]
rs8088881	0.82[EUR][1000 genomes]
rs8089150	0.85[EUR][1000 genomes]
rs8092674	0.84[EUR][1000 genomes]
rs8093880	0.84[EUR][1000 genomes]
rs8094902	0.84[EUR][1000 genomes]
rs8095031	0.84[EUR][1000 genomes]
rs8095608	0.87[EUR][1000 genomes]
rs9304329	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304330	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945606	0.85[EUR][1000 genomes]
rs9945751	0.85[EUR][1000 genomes]
rs9946983	0.92[ASN][1000 genomes]
rs9950562	0.88[ASN][1000 genomes]
rs9954278	0.85[EUR][1000 genomes]
rs9962380	0.85[EUR][1000 genomes]
rs9962458	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685000-43707000	Weak transcription	Spleen	Spleen
2	chr18:43685000-43709000	Weak transcription	Pancreas	Pancrea
3	chr18:43685200-43709000	Weak transcription	Right Ventricle	heart
4	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
6	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:43685400-43708200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:43685400-43709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
11	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
15	chr18:43685400-43717200	Weak transcription	HepG2	liver
16	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
18	chr18:43686000-43710200	Weak transcription	NHEK	skin
19	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
20	chr18:43686600-43708200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:43693200-43711000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:43693200-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:43693400-43710400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:43693800-43710200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:43694200-43709600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:43694200-43713600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:43694200-43714000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
31	chr18:43694800-43708800	Weak transcription	Lung	lung
32	chr18:43694800-43709600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr18:43695000-43714800	Weak transcription	HSMMtube	muscle
34	chr18:43695000-43715200	Weak transcription	K562	blood
35	chr18:43695200-43707400	Weak transcription	GM12878-XiMat	blood
36	chr18:43695200-43712400	Weak transcription	HMEC	breast
37	chr18:43695200-43712800	Weak transcription	A549	lung
38	chr18:43699200-43711000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:43699400-43707600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:43699400-43710400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr18:43699600-43710400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:43699600-43711800	Strong transcription	Fetal Thymus	thymus
43	chr18:43699600-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:43700200-43711400	Weak transcription	Hela-S3	cervix
45	chr18:43700400-43710800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:43700400-43712200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr18:43700600-43707400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:43700600-43710200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr18:43700600-43711200	Strong transcription	Dnd41	blood
50	chr18:43700600-43711600	Strong transcription	Primary monocytes fromperipheralblood	blood

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