Variant report

Variant	rs11227310
Chromosome Location	chr11:65584733-65584734
allele	A/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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65512073..65513878-chr11:65584260..65586150,2	MCF-7	breast:
2	chr11:65547331..65547857-chr11:65584018..65584938,2	MCF-7	breast:
3	chr11:65582084..65587022-chr11:65624038..65628577,11	MCF-7	breast:
4	chr11:65486263..65489234-chr11:65583583..65585809,2	K562	blood:
5	chr11:65584486..65587354-chr11:65754171..65756928,3	K562	blood:
6	chr11:65545925..65552801-chr11:65581920..65586715,7	K562	blood:
7	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
8	chr11:65478250..65482749-chr11:65583572..65587517,11	MCF-7	breast:
9	chr11:65534519..65536964-chr11:65583133..65585899,2	K562	blood:
10	chr11:65536504..65538956-chr11:65583165..65585823,2	K562	blood:
11	chr11:65512051..65514239-chr11:65583382..65586329,2	K562	blood:
12	chr11:65584264..65587334-chr11:65598974..65601332,3	K562	blood:
13	chr11:65484062..65489605-chr11:65581322..65585682,6	MCF-7	breast:
14	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
15	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
16	chr11:65552345..65559376-chr11:65580965..65587386,14	MCF-7	breast:
17	chr11:65478558..65482535-chr11:65584117..65589770,6	MCF-7	breast:
18	chr11:65559464..65561142-chr11:65583061..65585771,2	MCF-7	breast:
19	chr11:65546622..65548622-chr11:65584340..65586362,19	K562	blood:
20	chr11:65553411..65554928-chr11:65582468..65584749,2	K562	blood:
21	chr11:65583782..65587125-chr11:65623983..65628474,5	K562	blood:
22	chr11:65581575..65585638-chr11:65589269..65592512,3	K562	blood:
23	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:
24	chr11:65273468..65276593-chr11:65582844..65587199,4	K562	blood:
25	chr11:65548465..65551454-chr11:65582521..65585246,2	K562	blood:
26	chr11:65478477..65481649-chr11:65584487..65588308,4	K562	blood:
27	chr11:65584338..65587063-chr11:65817506..65819503,2	K562	blood:
28	chr11:65581388..65588369-chr11:65620968..65629930,12	MCF-7	breast:
29	chr11:65546140..65552176-chr11:65581336..65587164,12	MCF-7	breast:
30	chr11:65584332..65587287-chr11:65655323..65657100,2	K562	blood:
31	chr11:65583716..65586107-chr11:65625688..65628072,3	K562	blood:
32	chr11:65583886..65587148-chr11:65616110..65620547,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFL1-4	chr11:65583595-65584758	NONHSAT022221

No data

Variant related genes	Relation type
ENSG00000172922	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000255557	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172803	Chromatin interaction
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10896056	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227306	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227313	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227314	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227315	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800497	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35138525	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102454	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928652	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971481	0.81[AMR][1000 genomes];0.86[EUR][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	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	esv998472	chr11:65581362-65585126	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11227310	SNX32	cis	Esophagus Muscularis	GTEx
rs11227310	SNX32	cis	Artery Aorta	GTEx
rs11227310	CTSW	cis	Artery Tibial	GTEx
rs11227310	CTSW	cis	lung	GTEx
rs11227310	CTSW	cis	Thyroid	GTEx
rs11227310	CTSW	cis	Whole Blood	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
2	chr11:65578000-65584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:65578200-65585200	Weak transcription	Right Ventricle	heart
4	chr11:65578200-65585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:65578200-65585400	Weak transcription	Gastric	stomach
6	chr11:65578600-65585000	Enhancers	Placenta	Placenta
7	chr11:65579400-65585000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:65579600-65585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65580200-65585000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:65580600-65585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:65581200-65585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:65582000-65585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:65582000-65585000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:65582400-65584800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:65582400-65584800	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:65582400-65585000	Weak transcription	Ovary	ovary
17	chr11:65582600-65585000	Weak transcription	Right Atrium	heart
18	chr11:65582600-65585000	Weak transcription	Osteobl	bone
19	chr11:65582600-65585200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:65582800-65585200	Weak transcription	Esophagus	oesophagus
21	chr11:65582800-65585200	Weak transcription	Left Ventricle	heart
22	chr11:65583000-65585200	Weak transcription	Aorta	Aorta
23	chr11:65583200-65584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:65583200-65585000	Weak transcription	NHEK	skin
25	chr11:65583800-65585000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:65583800-65585000	Enhancers	Brain Substantia Nigra	brain
27	chr11:65584000-65585000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:65584000-65585000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:65584200-65584800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:65584200-65584800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:65584200-65584800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:65584200-65584800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:65584200-65584800	Enhancers	Adipose Nuclei	Adipose
34	chr11:65584200-65584800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:65584200-65585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:65584200-65585000	Enhancers	Primary B cells from cord blood	blood
37	chr11:65584200-65585000	Enhancers	Colon Smooth Muscle	Colon
38	chr11:65584200-65585000	Enhancers	K562	blood
39	chr11:65584200-65585200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:65584200-65585200	Enhancers	Stomach Mucosa	stomach
41	chr11:65584200-65586200	Flanking Active TSS	Dnd41	blood
42	chr11:65584200-65586400	Enhancers	Fetal Heart	heart
43	chr11:65584400-65584800	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:65584400-65584800	Enhancers	Liver	Liver
45	chr11:65584400-65584800	Enhancers	Pancreas	Pancrea
46	chr11:65584400-65584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:65584400-65585000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:65584400-65585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:65584400-65585000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:65584400-65585000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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