Variant report

Variant	rs7931522
Chromosome Location	chr11:18111518-18111519
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	chr11:18102086..18103945-chr11:18110453..18114636,4	K562	blood:
2	chr11:18101916..18104550-chr11:18109024..18114636,6	K562	blood:

Variant related genes	Relation type
ENSG00000166788	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10741736	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766453	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10832881	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024462	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11024467	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024469	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024470	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024472	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024474	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024475	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024477	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024478	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024480	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024487	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024488	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024489	0.83[ASN][1000 genomes]
rs11024491	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024492	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12360537	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365158	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365751	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417591	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1399025	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824018	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1980096	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980097	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085275	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2124378	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2271533	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403246	0.93[EUR][1000 genomes]
rs3741199	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4287320	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4756930	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757613	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56001925	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61882529	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486406	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7102017	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103885	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104168	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104856	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106970	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7113855	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7118250	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7129345	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933593	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7936469	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7936878	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939791	0.96[EUR][1000 genomes]
rs7943526	0.97[EUR][1000 genomes]
rs7944348	0.97[EUR][1000 genomes]
rs871699	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907922	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs964833	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964834	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964835	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7931522	SAAL1	Cis_1M	lymphoblastoid	RTeQTL
rs7931522	SERGEF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
2	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
3	chr11:18096400-18118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:18098200-18124400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:18099000-18125800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18099200-18114200	Weak transcription	Fetal Heart	heart
7	chr11:18099600-18114800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:18099800-18118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:18099800-18124800	Strong transcription	Dnd41	blood
10	chr11:18100200-18126200	Weak transcription	Small Intestine	intestine
11	chr11:18100400-18118600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:18100400-18126000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:18100600-18117600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:18100600-18118200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:18100600-18125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:18100800-18126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:18101000-18112200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:18101000-18122000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:18101600-18114400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:18102200-18117800	Strong transcription	HSMM	muscle
21	chr11:18102400-18118400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:18103000-18114000	Weak transcription	HSMMtube	muscle
23	chr11:18103200-18114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:18103400-18112600	Weak transcription	Psoas Muscle	Psoas
25	chr11:18103400-18126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:18104600-18111600	Strong transcription	Liver	Liver
27	chr11:18104800-18111600	Strong transcription	Placenta	Placenta
28	chr11:18104800-18125200	Strong transcription	Primary T cells from cord blood	blood
29	chr11:18104800-18125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:18105000-18112200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:18105000-18118200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:18105000-18118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:18105200-18118200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:18105200-18118400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:18105200-18118600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:18105400-18112800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:18105400-18119000	Strong transcription	HMEC	breast
38	chr11:18105400-18125800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:18105800-18111800	Strong transcription	Thymus	Thymus
40	chr11:18105800-18112000	Strong transcription	Left Ventricle	heart
41	chr11:18105800-18118600	Strong transcription	Fetal Thymus	thymus
42	chr11:18106000-18117800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:18107000-18112000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:18107200-18111600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:18107200-18111600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:18107200-18111800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:18107200-18111800	Strong transcription	NH-A	brain
48	chr11:18107200-18126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:18107400-18112000	Strong transcription	Brain Germinal Matrix	brain
50	chr11:18107400-18115000	Strong transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links