Variant report

Variant	rs4797708
Chromosome Location	chr18:12882060-12882061
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
2	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
3	chr18:12699803..12702594-chr18:12881299..12884040,2	K562	blood:
4	chr18:12833814..12836436-chr18:12879380..12882256,2	MCF-7	breast:
5	chr18:12880787..12883002-chr4:37479463..37481440,2	MCF-7	breast:
6	chr18:12702487..12704134-chr18:12881395..12884232,2	MCF-7	breast:
7	chr18:12699667..12702594-chr18:12881299..12884281,3	K562	blood:
8	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
9	chr18:12880723..12883598-chr18:12902234..12904693,2	K562	blood:
10	chr18:12808897..12811465-chr18:12881476..12883993,2	MCF-7	breast:
11	chr18:12712618..12714597-chr18:12880301..12882265,2	K562	blood:
12	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2292758	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3826556	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs45579734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471401	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4797707	0.82[ASN][1000 genomes]
rs507304	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56384328	0.88[ASN][1000 genomes]
rs578377	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58200120	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59471125	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs607906	0.85[ASN][1000 genomes]
rs60803113	0.88[ASN][1000 genomes]
rs622717	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs637643	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669822	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs670671	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs683468	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7238238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872144	0.87[ASN][1000 genomes]
rs73950681	0.83[ASN][1000 genomes]
rs73950683	0.85[ASN][1000 genomes]
rs73950684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73950685	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084365	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091305	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959061	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9961827	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12865800-12883000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12875600-12882800	Enhancers	Primary B cells from peripheral blood	blood
3	chr18:12877600-12882200	Weak transcription	Fetal Heart	heart
4	chr18:12877800-12882400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:12878000-12882600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr18:12878200-12882400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr18:12878600-12882600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr18:12878600-12882600	Enhancers	Duodenum Mucosa	Duodenum
9	chr18:12878600-12882800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr18:12878600-12882800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr18:12878800-12882400	Flanking Active TSS	GM12878-XiMat	blood
12	chr18:12878800-12882600	Enhancers	Primary T cells from cord blood	blood
13	chr18:12878800-12882600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr18:12878800-12882600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr18:12878800-12882600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr18:12878800-12882800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:12879000-12882600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr18:12879000-12882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:12879200-12882800	Enhancers	Liver	Liver
20	chr18:12879600-12882200	Weak transcription	Fetal Kidney	kidney
21	chr18:12879600-12882800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:12879600-12883200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr18:12879800-12882200	Enhancers	Pancreas	Pancrea
24	chr18:12879800-12882400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr18:12879800-12882600	Enhancers	Primary hematopoietic stem cells	blood
26	chr18:12879800-12882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr18:12879800-12882800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr18:12880000-12882200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr18:12880000-12882600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:12880000-12882600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:12880200-12882600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:12880400-12882400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
33	chr18:12880400-12882600	Weak transcription	Stomach Mucosa	stomach
34	chr18:12880400-12883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:12880600-12882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:12880600-12882800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:12880600-12883000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr18:12880600-12883000	Weak transcription	Left Ventricle	heart
39	chr18:12880800-12882800	Enhancers	Primary B cells from cord blood	blood
40	chr18:12880800-12882800	Weak transcription	Colonic Mucosa	Colon
41	chr18:12881000-12882200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr18:12881000-12882200	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr18:12881000-12882600	Enhancers	Fetal Brain Male	brain
44	chr18:12881200-12882400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr18:12881200-12882400	Enhancers	Psoas Muscle	Psoas
46	chr18:12881200-12882600	Enhancers	Fetal Lung	lung
47	chr18:12881200-12882600	Enhancers	Fetal Muscle Leg	muscle
48	chr18:12881200-12882800	Enhancers	Adipose Nuclei	Adipose
49	chr18:12881200-12883200	Weak transcription	Spleen	Spleen
50	chr18:12881400-12882200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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