Variant report

Variant	rs59220317
Chromosome Location	chr11:93443300-93443301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11020493	0.87[ASN][1000 genomes]
rs16919267	1.00[ASN][1000 genomes]
rs17174449	1.00[ASN][1000 genomes]
rs1784203	0.87[ASN][1000 genomes]
rs2155245	0.87[ASN][1000 genomes]
rs2155248	0.87[ASN][1000 genomes]
rs2288505	1.00[ASN][1000 genomes]
rs2298706	1.00[ASN][1000 genomes]
rs2298707	1.00[ASN][1000 genomes]
rs2434986	0.83[ASN][1000 genomes]
rs2509840	0.87[ASN][1000 genomes]
rs3737461	1.00[ASN][1000 genomes]
rs3802770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802773	1.00[ASN][1000 genomes]
rs3802774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3802775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3819173	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4303196	0.87[ASN][1000 genomes]
rs60264207	1.00[ASN][1000 genomes]
rs623510	0.87[ASN][1000 genomes]
rs630648	0.87[ASN][1000 genomes]
rs631116	0.87[ASN][1000 genomes]
rs643924	0.87[ASN][1000 genomes]
rs648162	0.87[ASN][1000 genomes]
rs7115167	1.00[ASN][1000 genomes]
rs7129028	1.00[ASN][1000 genomes]
rs7929351	1.00[ASN][1000 genomes]
rs7937088	0.97[ASN][1000 genomes]
rs7951514	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
5	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
9	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
10	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
13	chr11:93432400-93448000	Weak transcription	Gastric	stomach
14	chr11:93432600-93448000	Weak transcription	Lung	lung
15	chr11:93432800-93448200	Weak transcription	Right Ventricle	heart
16	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:93437200-93448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:93437400-93443600	Strong transcription	Fetal Kidney	kidney
19	chr11:93437800-93448000	Weak transcription	Aorta	Aorta
20	chr11:93438000-93448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:93439000-93444000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:93439600-93443600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:93439800-93443400	ZNF genes & repeats	Dnd41	blood
24	chr11:93439800-93444600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:93440000-93444000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr11:93440200-93447800	Weak transcription	Placenta	Placenta
27	chr11:93440200-93460000	Weak transcription	NHLF	lung
28	chr11:93440600-93443600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:93440800-93444000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:93440800-93444000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:93440800-93444000	Strong transcription	A549	lung
32	chr11:93440800-93445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:93440800-93445000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr11:93441000-93444800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:93441000-93447400	Weak transcription	Esophagus	oesophagus
36	chr11:93441000-93447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:93441200-93444200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:93441200-93444600	ZNF genes & repeats	GM12878-XiMat	blood
39	chr11:93441400-93443400	Strong transcription	HUVEC	blood vessel
40	chr11:93441400-93443400	ZNF genes & repeats	K562	blood
41	chr11:93441400-93444000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:93441400-93444000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr11:93441400-93444000	ZNF genes & repeats	Liver	Liver
44	chr11:93441400-93444000	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:93441400-93444000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr11:93441400-93444200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:93441400-93444400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:93441400-93444400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:93441400-93444600	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr11:93441400-93444600	ZNF genes & repeats	Adipose Nuclei	Adipose

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