Variant report

Variant	rs1892938
Chromosome Location	chr11:66093612-66093613
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
2	chr11:66083687..66088090-chr11:66090957..66094133,5	K562	blood:
3	chr11:66079702..66081226-chr11:66092137..66094285,2	MCF-7	breast:
4	chr11:66054004..66059089-chr11:66088488..66094920,9	MCF-7	breast:
5	chr11:66084338..66086031-chr11:66092947..66095134,2	K562	blood:
6	chr11:66052087..66053610-chr11:66091121..66094110,2	MCF-7	breast:
7	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
8	chr11:66044842..66048035-chr11:66092705..66097892,5	K562	blood:
9	chr11:66079319..66080867-chr11:66093163..66095729,2	MCF-7	breast:
10	chr11:66089278..66092280-chr11:66092886..66097368,7	K562	blood:
11	chr11:66054081..66055900-chr11:66092894..66095581,2	MCF-7	breast:
12	chr11:66054084..66058324-chr11:66093357..66097768,5	K562	blood:
13	chr11:66089326..66092230-chr11:66092519..66097068,6	K562	blood:
14	chr11:66092528..66094950-chr11:66110471..66113392,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174851	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000245156	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11823140	0.85[GIH][hapmap]
rs1784029	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs1785633	0.91[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap]
rs1785639	0.81[CEU][hapmap];0.85[GIH][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap]
rs1892940	0.91[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];0.84[YRI][hapmap]
rs2276106	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2279861	0.91[ASW][hapmap];0.83[LWK][hapmap];0.84[YRI][hapmap]
rs2279862	0.91[ASW][hapmap];0.83[LWK][hapmap];0.84[YRI][hapmap]
rs3016767	0.83[YRI][hapmap]
rs4244813	0.84[YRI][hapmap]
rs4930178	0.83[YRI][hapmap]
rs66733929	0.82[ASN][1000 genomes]
rs7104570	0.81[CEU][hapmap]
rs947978	0.91[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv3339891	chr11:66088976-66093674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1892938	SNX32	cis	parietal	SCAN
rs1892938	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs1892938	SLC25A45	cis	parietal	SCAN
rs1892938	ACTN3	cis	Muscle Skeletal	GTEx
rs1892938	ASRGL1	cis	parietal	SCAN
rs1892938	MRPL11	cis	cerebellum	SCAN
rs1892938	ESRRA	cis	cerebellum	SCAN
rs1892938	SCYL1	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:66089000-66094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:66089000-66094800	Enhancers	NHDF-Ad	bronchial
6	chr11:66089000-66095000	Enhancers	Adipose Nuclei	Adipose
7	chr11:66089200-66094200	Enhancers	Osteobl	bone
8	chr11:66089200-66097600	Enhancers	NHLF	lung
9	chr11:66090600-66094800	Weak transcription	K562	blood
10	chr11:66090600-66095000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:66090600-66096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:66091400-66096600	Enhancers	Placenta	Placenta
13	chr11:66091600-66095200	Enhancers	Spleen	Spleen
14	chr11:66091600-66096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:66091600-66096600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:66091800-66094200	Enhancers	HSMM	muscle
17	chr11:66091800-66094800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:66091800-66094800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:66091800-66094800	Enhancers	HSMMtube	muscle
20	chr11:66091800-66095000	Enhancers	Fetal Lung	lung
21	chr11:66091800-66095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:66091800-66095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:66091800-66096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:66091800-66096000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:66091800-66096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:66091800-66096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:66091800-66096600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:66091800-66096600	Enhancers	Fetal Muscle Trunk	muscle
29	chr11:66091800-66096600	Enhancers	Fetal Stomach	stomach
30	chr11:66091800-66096600	Enhancers	NH-A	brain
31	chr11:66091800-66097800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:66092000-66093800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:66092000-66096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:66092000-66096000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:66092000-66096400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:66092000-66096400	Enhancers	Fetal Muscle Leg	muscle
37	chr11:66092200-66093800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:66092200-66093800	Flanking Active TSS	Hela-S3	cervix
39	chr11:66092200-66094800	Enhancers	NHEK	skin
40	chr11:66092200-66095600	Weak transcription	Ovary	ovary
41	chr11:66092200-66096000	Enhancers	A549	lung
42	chr11:66092200-66096400	Enhancers	Esophagus	oesophagus
43	chr11:66092200-66096400	Enhancers	Lung	lung
44	chr11:66092200-66097000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:66092400-66094000	Bivalent Enhancer	HepG2	liver
46	chr11:66092400-66096400	Enhancers	Fetal Intestine Large	intestine
47	chr11:66092400-66097600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:66092600-66093800	Enhancers	Thymus	Thymus
49	chr11:66092600-66094000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:66092600-66094000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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