Variant report

Variant	rs10791830
Chromosome Location	chr11:65661291-65661292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65190823..65192325-chr11:65659028..65661799,2	K562	blood:
2	chr11:65465574..65468849-chr11:65659509..65661845,3	K562	blood:
3	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
4	chr11:65473150..65475653-chr11:65659973..65662538,2	K562	blood:
5	chr11:65574802..65576504-chr11:65658689..65661475,2	K562	blood:
6	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
7	chr11:65472457..65475716-chr11:65659486..65662901,4	K562	blood:
8	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175573	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1151519	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1204650	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12225345	0.84[ASN][1000 genomes]
rs2231884	1.00[GIH][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs507062	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538268	0.82[ASN][1000 genomes]
rs568617	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs583887	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs585557	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58568715	0.88[EUR][1000 genomes]
rs588114	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs596002	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs601863	0.94[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs608616	0.93[EUR][1000 genomes]
rs622614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs641018	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs645900	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs656980	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs658524	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs658938	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs677931	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs687672	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs693824	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs694994	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs10791830	FIBP	cis	parietal	SCAN
rs10791830	SNX32	cis	Esophagus Mucosa	GTEx
rs10791830	CTSW	cis	lymphoblastoid	seeQTL
rs10791830	RAB3IL1	cis	cerebellum	SCAN
rs10791830	RBM14	cis	parietal	SCAN
rs10791830	CTSW	cis	Artery Tibial	GTEx
rs10791830	SNX32	cis	cerebellum	SCAN
rs10791830	CTSW	cis	Whole Blood	GTEx
rs10791830	CTSW	cis	Esophagus Mucosa	GTEx
rs10791830	SNX32	cis	Artery Aorta	GTEx
rs10791830	RBM4	cis	cerebellum	SCAN
rs10791830	FIBP	cis	multi-tissue	Pritchard
rs10791830	SNX32	cis	Esophagus Muscularis	GTEx
rs10791830	SNX32	cis	parietal	SCAN
rs10791830	SNX32	cis	Nerve Tibial	GTEx
rs10791830	CTSW	cis	lung	GTEx
rs10791830	SNX32	cis	Artery Tibial	GTEx
rs10791830	FIBP	cis	lymphoblastoid	seeQTL
rs10791830	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs10791830	CTSW	cis	Artery Aorta	GTEx
rs10791830	CTSW	cis	Nerve Tibial	GTEx
rs10791830	CTSW	cis	Esophagus Muscularis	GTEx
rs10791830	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs10791830	SNX32	cis	Thyroid	GTEx
rs10791830	CTSW	cis	Thyroid	GTEx
rs10791830	CTSW	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:65656200-65662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:65658200-65662000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:65658600-65662000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr11:65658600-65662200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:65658800-65662000	Transcr. at gene 5' and 3'	NHLF	lung
7	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
8	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:65659000-65662200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:65659200-65661400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:65659200-65661800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr11:65659200-65662200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr11:65659400-65661400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:65659400-65662000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65659600-65661600	Enhancers	Fetal Lung	lung
16	chr11:65659600-65661800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65659600-65662000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:65659600-65662000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:65659600-65662000	Enhancers	Spleen	Spleen
20	chr11:65659800-65661600	Enhancers	Fetal Heart	heart
21	chr11:65659800-65661800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:65659800-65661800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:65659800-65661800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:65659800-65661800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:65659800-65662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:65659800-65662000	Enhancers	Placenta	Placenta
27	chr11:65659800-65665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:65659800-65665800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:65660000-65661400	Enhancers	Brain Germinal Matrix	brain
30	chr11:65660000-65661600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:65660000-65662000	Enhancers	Left Ventricle	heart
32	chr11:65660000-65662000	Genic enhancers	NH-A	brain
33	chr11:65660200-65661400	Enhancers	Fetal Stomach	stomach
34	chr11:65660200-65662000	Genic enhancers	A549	lung
35	chr11:65660200-65662200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:65660200-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:65660200-65662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:65660200-65665800	Genic enhancers	K562	blood
39	chr11:65660400-65661400	Enhancers	Stomach Mucosa	stomach
40	chr11:65660400-65661600	Enhancers	Fetal Brain Male	brain
41	chr11:65660400-65661600	Active TSS	Right Atrium	heart
42	chr11:65660400-65662000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:65660400-65662000	Enhancers	Fetal Muscle Leg	muscle
44	chr11:65660600-65661400	Genic enhancers	HMEC	breast
45	chr11:65660600-65661400	Genic enhancers	NHDF-Ad	bronchial
46	chr11:65660600-65661800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:65660600-65661800	Enhancers	HepG2	liver
48	chr11:65660600-65662000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:65660600-65666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:65660600-65666600	Weak transcription	Pancreas	Pancrea

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