Variant report

Variant	rs61884295
Chromosome Location	chr11:46693169-46693170
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	chr11:46692292-46693170	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
2	chr11:46692927..46695106-chr11:46701903..46703422,2	K562	blood:

Variant related genes	Relation type
ATG13	TF binding region
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10838613	0.84[EUR][1000 genomes]
rs11038927	0.81[EUR][1000 genomes]
rs11038974	0.94[EUR][1000 genomes]
rs12292425	0.85[EUR][1000 genomes]
rs12295266	0.84[EUR][1000 genomes]
rs12574259	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12574918	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35623865	0.84[EUR][1000 genomes]
rs4307676	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4319473	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423142	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55657382	0.85[EUR][1000 genomes]
rs55661562	0.85[EUR][1000 genomes]
rs55896955	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56349329	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57739486	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57744667	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60722866	0.85[EUR][1000 genomes]
rs60932698	0.87[EUR][1000 genomes]
rs61882756	0.82[EUR][1000 genomes]
rs61882757	0.84[EUR][1000 genomes]
rs61882758	0.84[EUR][1000 genomes]
rs61884264	0.84[EUR][1000 genomes]
rs61884271	0.87[EUR][1000 genomes]
rs61884273	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884274	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884292	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884301	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6485685	0.85[EUR][1000 genomes]
rs7108770	0.85[EUR][1000 genomes]
rs7109698	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122039	0.85[EUR][1000 genomes]
rs7125907	0.83[EUR][1000 genomes]
rs7126316	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7126343	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7128092	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73449983	0.84[EUR][1000 genomes]
rs7481312	0.82[EUR][1000 genomes]
rs7484002	0.85[EUR][1000 genomes]
rs7924401	0.85[EUR][1000 genomes]
rs7926389	0.98[EUR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
9	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
10	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
14	chr11:46678400-46694000	Weak transcription	Stomach Mucosa	stomach
15	chr11:46679400-46695200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:46679400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:46680400-46695000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:46681400-46695000	Strong transcription	Liver	Liver
19	chr11:46681800-46695000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:46682000-46695200	Strong transcription	Fetal Intestine Large	intestine
21	chr11:46682800-46695600	Strong transcription	Hela-S3	cervix
22	chr11:46683400-46695200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:46683400-46695400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:46683400-46695400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:46683400-46695400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:46683600-46693200	Strong transcription	GM12878-XiMat	blood
27	chr11:46683600-46693400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:46683600-46695600	Strong transcription	HepG2	liver
29	chr11:46685000-46694000	Strong transcription	Gastric	stomach
30	chr11:46685200-46695400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:46685200-46695600	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr11:46685400-46695400	Strong transcription	NHEK	skin
33	chr11:46685400-46695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:46685400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:46686200-46696000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46686400-46695000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:46686600-46695200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:46686800-46695400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:46687000-46695200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:46687200-46695200	Strong transcription	Lung	lung
41	chr11:46688800-46695600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:46689000-46693600	Weak transcription	Right Atrium	heart
43	chr11:46689200-46695000	Strong transcription	Fetal Lung	lung
44	chr11:46689200-46695400	Strong transcription	K562	blood
45	chr11:46689200-46696600	Strong transcription	Fetal Stomach	stomach
46	chr11:46689400-46693600	Strong transcription	Adipose Nuclei	Adipose
47	chr11:46689400-46693600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:46689400-46695400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:46689400-46695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:46689600-46694200	Genic enhancers	Dnd41	blood

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