Variant report

Variant	rs633877
Chromosome Location	chr11:65630101-65630102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65630059-65630293	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
3	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
4	POLR2A	chr11:65629110-65633804	K562	blood:	n/a	n/a
5	POLR2A	chr11:65617073-65630131	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:65616706-65640269	U87	brain:	n/a	n/a
7	POLR2A	chr11:65629647-65631226	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:65616541-65630139	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:65616501-65633874	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:
2	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
3	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
4	chr11:65629227..65631870-chr11:65766567..65769342,2	MCF-7	breast:
5	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
6	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:

No data

Variant related genes	Relation type
MUS81	TF binding region
CFL1	TF binding region
ENSG00000172922	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10791828	0.85[AMR][1000 genomes]
rs13817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939212	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545500	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs635375	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667555	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs668356	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679147	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125986	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947741	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947929	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[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	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs633877	SNX32	cis	Esophagus Muscularis	GTEx
rs633877	SNX32	cis	Artery Tibial	GTEx
rs633877	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs633877	SNX32	cis	Whole Blood	GTEx
rs633877	SNX32	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65628200-65633600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:65628800-65639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65629000-65630600	Genic enhancers	Brain Hippocampus Middle	brain
4	chr11:65629000-65630600	Enhancers	Fetal Brain Male	brain
5	chr11:65629000-65631000	Genic enhancers	Fetal Thymus	thymus
6	chr11:65629000-65631600	Genic enhancers	Spleen	Spleen
7	chr11:65629000-65632600	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr11:65629000-65639600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:65629200-65630200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:65629200-65630200	Genic enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:65629200-65630400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:65629200-65630400	Genic enhancers	Brain Cingulate Gyrus	brain
13	chr11:65629200-65630400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:65629200-65630600	Genic enhancers	Pancreas	Pancrea
15	chr11:65629200-65630600	Enhancers	Stomach Mucosa	stomach
16	chr11:65629200-65630800	Genic enhancers	Colon Smooth Muscle	Colon
17	chr11:65629200-65631000	Genic enhancers	Adipose Nuclei	Adipose
18	chr11:65629200-65631000	Genic enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:65629200-65631200	Genic enhancers	Right Ventricle	heart
20	chr11:65629200-65631600	Genic enhancers	Fetal Stomach	stomach
21	chr11:65629200-65632800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:65629200-65634600	Strong transcription	Aorta	Aorta
23	chr11:65629400-65630400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:65629400-65630400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:65629400-65630400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr11:65629400-65630400	Genic enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:65629400-65630600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:65629400-65630600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:65629400-65631000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:65629400-65631000	Weak transcription	Small Intestine	intestine
31	chr11:65629400-65631200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:65629400-65631600	Weak transcription	Fetal Kidney	kidney
33	chr11:65629400-65631800	Enhancers	Fetal Heart	heart
34	chr11:65629400-65632600	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr11:65629400-65633200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:65629400-65634400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65629400-65634400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:65629400-65634800	Strong transcription	Brain Substantia Nigra	brain
39	chr11:65629400-65635200	Strong transcription	Brain Anterior Caudate	brain
40	chr11:65629400-65638600	Weak transcription	Right Atrium	heart
41	chr11:65629600-65630200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:65629600-65630200	Genic enhancers	Colonic Mucosa	Colon
43	chr11:65629600-65630200	Genic enhancers	HepG2	liver
44	chr11:65629600-65630200	Genic enhancers	NHEK	skin
45	chr11:65629600-65630400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:65629600-65630400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
47	chr11:65629600-65630400	Weak transcription	Psoas Muscle	Psoas
48	chr11:65629600-65630400	Genic enhancers	HUVEC	blood vessel
49	chr11:65629600-65630800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:65629600-65630800	Weak transcription	Primary hematopoietic stem cells	blood

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