Variant report

Variant	rs12420014
Chromosome Location	chr11:18499416-18499417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11024719	0.81[TSI][hapmap]
rs12416742	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv897027	chr11:18435700-18499416	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 target site	72 gene(s)	inside rSNPs	diseases
8	nsv467719	chr11:18447611-18542227	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv553634	chr11:18447611-18542227	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12420014	TSG101	Cis_1M	lymphoblastoid	RTeQTL
rs12420014	TSG101	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18483600-18526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18488400-18501200	Weak transcription	Esophagus	oesophagus
3	chr11:18488400-18501400	Weak transcription	HepG2	liver
4	chr11:18489800-18500600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:18490400-18500000	Weak transcription	HUVEC	blood vessel
6	chr11:18492800-18501200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:18493200-18500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:18493600-18500600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:18493600-18500800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:18493600-18501400	Weak transcription	Colonic Mucosa	Colon
11	chr11:18493800-18499600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:18493800-18500000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:18493800-18502200	Weak transcription	Fetal Brain Male	brain
14	chr11:18494000-18502000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:18494400-18508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:18494600-18502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:18494800-18507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:18495000-18505800	Strong transcription	Thymus	Thymus
19	chr11:18495200-18502200	Weak transcription	Pancreas	Pancrea
20	chr11:18495400-18499600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:18495400-18500600	Weak transcription	NHDF-Ad	bronchial
22	chr11:18495600-18499600	Weak transcription	HMEC	breast
23	chr11:18495600-18499600	Weak transcription	NHEK	skin
24	chr11:18495600-18501400	Weak transcription	NHLF	lung
25	chr11:18496000-18508200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:18496000-18515200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:18496200-18503600	Weak transcription	Hela-S3	cervix
28	chr11:18496200-18508000	Strong transcription	Fetal Intestine Large	intestine
29	chr11:18496200-18508000	Strong transcription	Fetal Thymus	thymus
30	chr11:18496200-18508000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:18496200-18508200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:18496200-18513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:18496200-18513400	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:18496400-18501600	Weak transcription	Small Intestine	intestine
37	chr11:18496400-18506000	Strong transcription	Osteobl	bone
38	chr11:18496400-18506600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:18496400-18507800	Strong transcription	Dnd41	blood
40	chr11:18496400-18508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:18496400-18508200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:18496400-18508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:18496400-18508200	Strong transcription	Liver	Liver
44	chr11:18496400-18510000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:18496400-18542000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:18496600-18506400	Strong transcription	Primary T cells from cord blood	blood
47	chr11:18496600-18507800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:18496600-18507800	Strong transcription	Adipose Nuclei	Adipose
49	chr11:18496600-18540600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:18496600-18541000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links