Variant report

Variant	rs7950696
Chromosome Location	chr11:47481533-47481534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47445979..47448076-chr11:47480821..47482800,2	K562	blood:
2	chr11:47476020..47478191-chr11:47478977..47481555,2	K562	blood:
3	chr11:47481249..47483281-chr11:47488440..47491351,2	K562	blood:

Variant related genes	Relation type
ENSG00000165916	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1056387	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10742814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769264	0.95[JPT][hapmap]
rs10838709	0.95[JPT][hapmap]
rs10838726	0.95[JPT][hapmap]
rs10838732	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10838740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11039225	0.95[JPT][hapmap]
rs11039244	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11039280	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12292911	0.95[JPT][hapmap]
rs12577643	0.84[ASN][1000 genomes]
rs2203712	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2242081	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293576	0.95[JPT][hapmap]
rs3740699	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6485758	0.95[JPT][hapmap]
rs6485763	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7103648	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7104036	0.85[ASN][1000 genomes]
rs7120548	0.95[JPT][hapmap]
rs7129797	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7933019	0.95[JPT][hapmap];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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7950696	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7950696	C1QTNF4	cis	multi-tissue	Pritchard
rs7950696	FNBP4	cis	lesional skin	skin_eQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47457400-47488400	Weak transcription	Gastric	stomach
3	chr11:47468800-47482200	Weak transcription	HUVEC	blood vessel
4	chr11:47471000-47486200	Weak transcription	Right Ventricle	heart
5	chr11:47471200-47482200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:47471200-47488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:47471400-47489200	Weak transcription	HepG2	liver
8	chr11:47471600-47486000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:47471800-47485600	Weak transcription	Spleen	Spleen
10	chr11:47472000-47485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:47474000-47485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:47475200-47482600	Weak transcription	NH-A	brain
13	chr11:47475800-47482200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:47475800-47486800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:47476000-47483600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:47476000-47486800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:47476000-47487400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:47476200-47482200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:47476200-47482400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:47476200-47485000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:47476200-47485200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:47476200-47485600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:47476200-47486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:47476200-47486600	Weak transcription	Brain Anterior Caudate	brain
25	chr11:47476200-47488200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:47476400-47485600	Weak transcription	K562	blood
27	chr11:47476600-47482400	Weak transcription	Hela-S3	cervix
28	chr11:47476600-47487400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:47476600-47488400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:47476600-47488600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:47477000-47487600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:47477600-47484800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47478000-47485000	Weak transcription	Liver	Liver
34	chr11:47478200-47488400	Weak transcription	Esophagus	oesophagus
35	chr11:47479000-47484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:47479200-47482200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:47479200-47483400	Weak transcription	Fetal Intestine Large	intestine
38	chr11:47479200-47483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:47479200-47485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:47479200-47485800	Weak transcription	Osteobl	bone
41	chr11:47479200-47486800	Weak transcription	Brain Germinal Matrix	brain
42	chr11:47479400-47485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:47479400-47485600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:47479400-47488200	Weak transcription	Colonic Mucosa	Colon
45	chr11:47479400-47491200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:47479600-47483600	Weak transcription	Fetal Lung	lung
47	chr11:47479600-47485200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:47479600-47486000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:47479600-47486200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:47479600-47489800	Weak transcription	Fetal Kidney	kidney

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