Variant report

Variant	rs11112166
Chromosome Location	chr12:105075769-105075770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105075358..105077039-chr12:105078970..105081222,2	K562	blood:
2	chr12:105074936..105077629-chr12:105083624..105085773,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10861268	0.80[ASN][1000 genomes]
rs10861269	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112157	0.80[ASN][1000 genomes]
rs11112159	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112160	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112161	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112162	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112163	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112167	0.86[EUR][1000 genomes]
rs11112168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12581027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133386	0.93[EUR][1000 genomes];0.81[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105065400-105076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105067600-105076400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:105067800-105076200	Weak transcription	Right Ventricle	heart
5	chr12:105067800-105076600	Weak transcription	Left Ventricle	heart
6	chr12:105067800-105078600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:105067800-105096000	Weak transcription	K562	blood
8	chr12:105068000-105076000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:105068000-105077600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:105068200-105078600	Weak transcription	NHDF-Ad	bronchial
11	chr12:105068400-105076200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:105069400-105076400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:105070600-105076400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:105070800-105076600	Weak transcription	Lung	lung
15	chr12:105071200-105076000	Weak transcription	Fetal Stomach	stomach
16	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:105071800-105076200	Weak transcription	Right Atrium	heart
18	chr12:105071800-105079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:105072200-105079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:105072800-105076200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:105072800-105076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:105073000-105076200	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:105073000-105077400	Weak transcription	Fetal Heart	heart
26	chr12:105073200-105076000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:105073200-105076400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:105073200-105076400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:105073400-105076000	Enhancers	Primary B cells from cord blood	blood
30	chr12:105073400-105076200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:105073400-105076200	Enhancers	GM12878-XiMat	blood
32	chr12:105073600-105076000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:105073600-105076400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:105073800-105076000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:105073800-105076200	Weak transcription	A549	lung
36	chr12:105074000-105076400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:105074200-105076000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:105074200-105076200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:105074200-105076200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:105074400-105075800	Enhancers	Dnd41	blood
43	chr12:105074400-105076600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:105074400-105077800	Weak transcription	Spleen	Spleen
45	chr12:105074400-105079800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:105074600-105076000	Weak transcription	Placenta	Placenta
47	chr12:105074600-105076000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:105074600-105076000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:105074600-105079400	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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