Variant report

Variant	rs60010669
Chromosome Location	chr11:77114425-77114426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77112378..77115850-chr11:77121869..77124513,3	K562	blood:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10466737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11237191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270710	0.88[AFR][1000 genomes]
rs12277109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295046	0.81[AFR][1000 genomes]
rs12295581	1.00[AMR][1000 genomes]
rs59645430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119661	0.94[AFR][1000 genomes]
rs73494591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73501412	1.00[AMR][1000 genomes]
rs73501418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77055200-77117600	Weak transcription	Pancreas	Pancrea
3	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
4	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
5	chr11:77091000-77117000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:77091000-77117600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:77093600-77117800	Weak transcription	NH-A	brain
8	chr11:77094000-77118400	Weak transcription	NHLF	lung
9	chr11:77094200-77118200	Weak transcription	NHDF-Ad	bronchial
10	chr11:77094200-77118400	Weak transcription	Colonic Mucosa	Colon
11	chr11:77095400-77121000	Weak transcription	Fetal Thymus	thymus
12	chr11:77095800-77118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
14	chr11:77098200-77118400	Weak transcription	Fetal Stomach	stomach
15	chr11:77102800-77116400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:77103000-77118400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:77103800-77121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:77104600-77118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:77107200-77117600	Weak transcription	Gastric	stomach
22	chr11:77108200-77117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:77111200-77115200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:77111200-77115200	Enhancers	HMEC	breast
26	chr11:77111200-77120400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:77111400-77115000	Enhancers	NHEK	skin
28	chr11:77112000-77114600	Enhancers	Psoas Muscle	Psoas
29	chr11:77112000-77114800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:77112000-77115000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:77112000-77117000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:77112200-77116000	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:77112400-77116000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:77112400-77118600	Weak transcription	Fetal Lung	lung
36	chr11:77112600-77115000	Enhancers	Fetal Intestine Small	intestine
37	chr11:77112600-77115400	Enhancers	Fetal Intestine Large	intestine
38	chr11:77112800-77118400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
40	chr11:77113000-77116200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:77113000-77116800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:77113200-77117600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:77113200-77118200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:77113400-77115200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:77113400-77117000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:77113400-77118400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:77113600-77114600	Enhancers	GM12878-XiMat	blood
48	chr11:77113600-77118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:77113600-77118400	Weak transcription	Hela-S3	cervix
50	chr11:77113800-77116000	Weak transcription	Liver	Liver

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