Variant report

Variant	rs56163906
Chromosome Location	chr18:13006326-13006327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:13006118-13006493	K562	blood:	n/a	n/a
2	MXI1	chr18:13006193-13006377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
2	chr18:12946000..12947737-chr18:13006165..13008057,2	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000266969	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11080621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11080622	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11872263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873826	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12232629	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16940054	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16940077	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1786285	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28880030	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35637816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473808	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57072282	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57607448	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57770092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58764311	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59385500	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59572954	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60369117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61155546	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61610540	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6505778	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228108	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7231935	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7236159	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239379	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7240309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243977	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874177	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72874185	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72875863	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72875879	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72877625	0.92[EUR][1000 genomes]
rs8086911	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8098299	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8182426	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9303778	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs977104	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9958439	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9959522	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9965066	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
5	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12993000-13006400	Weak transcription	Fetal Brain Female	brain
7	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:12993200-13006800	Weak transcription	HSMMtube	muscle
9	chr18:12993200-13007000	Weak transcription	Brain Substantia Nigra	brain
10	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:12993200-13008400	Weak transcription	Osteobl	bone
12	chr18:12993200-13008800	Weak transcription	NHLF	lung
13	chr18:12993400-13006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
15	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
16	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:12993800-13008400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:12993800-13008400	Weak transcription	Psoas Muscle	Psoas
20	chr18:12993800-13008400	Weak transcription	HMEC	breast
21	chr18:12993800-13008800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr18:12993800-13009200	Weak transcription	NHDF-Ad	bronchial
23	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:12997000-13006600	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:12997000-13008200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:12997000-13008600	Weak transcription	Brain Anterior Caudate	brain
28	chr18:12997000-13008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr18:12997200-13006800	Weak transcription	Right Atrium	heart
30	chr18:12997200-13011200	Weak transcription	Right Ventricle	heart
31	chr18:12997200-13013200	Weak transcription	Small Intestine	intestine
32	chr18:12997400-13008800	Weak transcription	Pancreas	Pancrea
33	chr18:12997400-13015000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr18:12998400-13006800	Weak transcription	Ovary	ovary
35	chr18:12998400-13041600	Strong transcription	Dnd41	blood
36	chr18:12998600-13008600	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12998800-13006600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr18:12998800-13008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:12999000-13007800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr18:12999000-13008800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr18:12999000-13011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
43	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
45	chr18:12999600-13017200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:13000200-13011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:13000600-13006600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:13000600-13007200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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