Variant report

Variant	rs12361289
Chromosome Location	chr11:18496526-18496527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18489055..18490593-chr11:18496337..18497953,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10741745	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10741746	0.83[ASN][1000 genomes]
rs10832941	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024694	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024717	0.83[ASN][1000 genomes]
rs1857907	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2132302	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291752	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2643866	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2658552	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2658554	0.86[ASN][1000 genomes]
rs2658564	0.86[ASN][1000 genomes]
rs2658567	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2698567	0.85[ASN][1000 genomes]
rs6486430	0.86[ASN][1000 genomes]
rs7119085	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129164	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12361289	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18477600-18498400	Weak transcription	Spleen	Spleen
2	chr11:18477800-18498000	Weak transcription	Fetal Brain Female	brain
3	chr11:18478200-18497600	Weak transcription	Right Ventricle	heart
4	chr11:18480000-18499400	Weak transcription	HSMMtube	muscle
5	chr11:18483600-18498400	Weak transcription	Aorta	Aorta
6	chr11:18483600-18526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:18485800-18497000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:18485800-18498200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:18486200-18496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:18487600-18497800	Weak transcription	Gastric	stomach
11	chr11:18488200-18496600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:18488400-18501200	Weak transcription	Esophagus	oesophagus
13	chr11:18488400-18501400	Weak transcription	HepG2	liver
14	chr11:18488600-18497800	Weak transcription	Ovary	ovary
15	chr11:18488600-18498400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:18488800-18496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:18489000-18497800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:18489000-18497800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:18489400-18496600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:18489400-18498400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:18489800-18500600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:18490200-18496600	Weak transcription	Adipose Nuclei	Adipose
23	chr11:18490200-18497000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:18490400-18496600	Weak transcription	Primary T cells from cord blood	blood
25	chr11:18490400-18496600	Weak transcription	Fetal Lung	lung
26	chr11:18490400-18497000	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:18490400-18500000	Weak transcription	HUVEC	blood vessel
28	chr11:18490800-18497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:18491000-18499200	Weak transcription	GM12878-XiMat	blood
30	chr11:18491600-18498000	Weak transcription	Placenta	Placenta
31	chr11:18491800-18498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:18492000-18496800	Weak transcription	A549	lung
33	chr11:18492000-18496800	Weak transcription	HSMM	muscle
34	chr11:18492000-18497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:18492800-18501200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:18493200-18498600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:18493200-18500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:18493400-18496800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:18493400-18497400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:18493400-18499200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:18493600-18496600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:18493600-18496600	Weak transcription	Brain Substantia Nigra	brain
43	chr11:18493600-18497000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:18493600-18497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:18493600-18497600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:18493600-18498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:18493600-18500600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:18493600-18500800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:18493600-18501400	Weak transcription	Colonic Mucosa	Colon
50	chr11:18493800-18496800	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links