Variant report

Variant	rs12801458
Chromosome Location	chr11:93442982-93442983
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12793625	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12802285	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12803913	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17651231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34140012	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35805434	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61918484	1.00[AFR][1000 genomes]
rs7939847	0.84[EUR][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:117 , 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	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
7	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:93426800-93443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
12	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
13	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
16	chr11:93432400-93443000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:93432400-93448000	Weak transcription	Gastric	stomach
18	chr11:93432600-93448000	Weak transcription	Lung	lung
19	chr11:93432800-93448200	Weak transcription	Right Ventricle	heart
20	chr11:93435800-93443200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:93437200-93448000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:93437400-93443600	Strong transcription	Fetal Kidney	kidney
24	chr11:93437800-93448000	Weak transcription	Aorta	Aorta
25	chr11:93438000-93448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:93439000-93444000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr11:93439600-93443600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:93439800-93443400	ZNF genes & repeats	Dnd41	blood
29	chr11:93439800-93444600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:93440000-93444000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:93440200-93447800	Weak transcription	Placenta	Placenta
32	chr11:93440200-93460000	Weak transcription	NHLF	lung
33	chr11:93440600-93443600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:93440800-93443200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:93440800-93444000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:93440800-93444000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:93440800-93444000	Strong transcription	A549	lung
38	chr11:93440800-93445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:93440800-93445000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr11:93441000-93444800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:93441000-93447400	Weak transcription	Esophagus	oesophagus
42	chr11:93441000-93447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:93441200-93444200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:93441200-93444600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr11:93441400-93443400	Strong transcription	HUVEC	blood vessel
46	chr11:93441400-93443400	ZNF genes & repeats	K562	blood
47	chr11:93441400-93444000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:93441400-93444000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr11:93441400-93444000	ZNF genes & repeats	Liver	Liver
50	chr11:93441400-93444000	Strong transcription	Colon Smooth Muscle	Colon

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