Variant report

Variant	rs10766483
Chromosome Location	chr11:18517746-18517747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10500836	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10741747	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10766484	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10766485	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832940	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024690	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024699	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024711	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12224694	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12225037	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12419063	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574808	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12577346	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1395319	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1395320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34457574	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3925781	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4298881	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4623881	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756949	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756950	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756952	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56333121	0.82[EUR][1000 genomes]
rs6486434	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105889	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107057	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7931630	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7934817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951508	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7952284	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs868069	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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	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
6	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
7	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
8	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10766483	LDHC	cis	Nerve Tibial	GTEx
rs10766483	TSG101	Cis_1M	lymphoblastoid	RTeQTL
rs10766483	LDHC	cis	Thyroid	GTEx
rs10766483	TSG101	cis	Esophagus Mucosa	GTEx
rs10766483	TSG101	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 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	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:18496400-18542000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr11:18496600-18540600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:18496600-18541000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:18500000-18547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:18504000-18540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:18504200-18522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:18504600-18523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:18504600-18523400	Weak transcription	Small Intestine	intestine
12	chr11:18504600-18523600	Weak transcription	HMEC	breast
13	chr11:18505200-18531800	Weak transcription	Fetal Brain Male	brain
14	chr11:18506000-18519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:18506400-18519600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:18508000-18519600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:18508000-18520200	Weak transcription	Hela-S3	cervix
18	chr11:18509000-18520600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:18509000-18537600	Strong transcription	Liver	Liver
20	chr11:18509000-18540200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:18509000-18540600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:18509600-18540200	Strong transcription	Placenta	Placenta
23	chr11:18510800-18524400	Strong transcription	Dnd41	blood
24	chr11:18510800-18541400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:18511000-18524400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:18511800-18527000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:18512000-18520000	Weak transcription	Right Ventricle	heart
28	chr11:18512200-18519600	Weak transcription	NH-A	brain
29	chr11:18512400-18519600	Weak transcription	Fetal Kidney	kidney
30	chr11:18512600-18519800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:18512800-18518200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:18512800-18523400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:18512800-18526800	Weak transcription	Spleen	Spleen
34	chr11:18513000-18518000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:18513000-18518200	Weak transcription	Aorta	Aorta
36	chr11:18513000-18519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:18513000-18519400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:18513000-18519400	Weak transcription	NHLF	lung
39	chr11:18513000-18521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:18513000-18522200	Weak transcription	Lung	lung
41	chr11:18513000-18522200	Weak transcription	Ovary	ovary
42	chr11:18513000-18522200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:18513000-18522600	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:18513000-18526800	Weak transcription	Pancreas	Pancrea
45	chr11:18513000-18544000	Weak transcription	Gastric	stomach
46	chr11:18513000-18544000	Weak transcription	Psoas Muscle	Psoas
47	chr11:18513000-18547600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:18513200-18518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:18513200-18518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:18513200-18518400	Weak transcription	H1 Cell Line	embryonic stem cell

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