Variant report

Variant	rs3809910
Chromosome Location	chr18:13069221-13069222
allele	A/G
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	chr18:13068859-13069663	K562	blood:	n/a	n/a

Variant related genes	Relation type
CEP192	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16940057	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940075	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940084	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940128	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1851569	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298595	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3737379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3786161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57636234	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57697412	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58097842	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58690660	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59126396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59483039	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61063323	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095827	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62095828	1.00[AMR][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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13043200-13077800	Strong transcription	Dnd41	blood
3	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:13049000-13070400	Weak transcription	Psoas Muscle	Psoas
6	chr18:13050800-13070800	Weak transcription	Right Atrium	heart
7	chr18:13052200-13078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:13054400-13077400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:13056600-13083800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:13056600-13095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:13062400-13075800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:13064800-13077400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:13064800-13077800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:13064800-13078000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:13065200-13076000	Strong transcription	Fetal Intestine Large	intestine
16	chr18:13065200-13076200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr18:13065200-13078400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr18:13065400-13076200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:13065400-13078200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr18:13065600-13076000	Strong transcription	K562	blood
21	chr18:13065600-13079200	Strong transcription	Fetal Thymus	thymus
22	chr18:13065800-13076000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr18:13065800-13078400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr18:13066200-13070200	Strong transcription	HepG2	liver
25	chr18:13066400-13076400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr18:13066400-13076400	Strong transcription	Fetal Muscle Leg	muscle
27	chr18:13066400-13078200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr18:13066400-13078200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:13066600-13070400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:13066600-13073800	Strong transcription	Left Ventricle	heart
31	chr18:13066600-13075200	Strong transcription	HUVEC	blood vessel
32	chr18:13066600-13075400	Strong transcription	NHEK	skin
33	chr18:13066600-13076000	Strong transcription	Adipose Nuclei	Adipose
34	chr18:13066600-13076200	Strong transcription	NH-A	brain
35	chr18:13066600-13076400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:13066600-13076400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr18:13066600-13077600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:13066600-13077800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr18:13066600-13078200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:13066600-13078800	Strong transcription	Thymus	Thymus
41	chr18:13066800-13071600	Strong transcription	Esophagus	oesophagus
42	chr18:13066800-13071600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:13066800-13076000	Strong transcription	HSMM	muscle
44	chr18:13066800-13077200	Strong transcription	Liver	Liver
45	chr18:13066800-13079000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:13067000-13076000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr18:13067000-13077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:13067000-13078000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:13067000-13079000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:13067000-13094600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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