Variant report

Variant	rs7105282
Chromosome Location	chr11:47805614-47805615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47789258..47792830-chr11:47805227..47807948,3	K562	blood:
2	chr11:47788391..47791248-chr11:47803262..47807448,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1064608	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs10838738	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10838747	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs10838748	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs10838757	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11039389	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11039390	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039391	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039416	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11039426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11039433	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11602339	0.82[AMR][1000 genomes]
rs11605774	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12361031	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12364432	0.83[ASN][1000 genomes]
rs12418852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12419692	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12421210	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12785833	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12787112	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs12787330	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12794570	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap]
rs12798109	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12803191	0.80[ASN][1000 genomes]
rs17788930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2290850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34128973	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34910028	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34923397	0.81[AMR][1000 genomes]
rs35805829	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35902101	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35985502	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3817334	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3817335	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4752797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4752856	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4752857	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4752873	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7120333	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7130758	0.80[ASN][1000 genomes]
rs7927771	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7947730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7105282	C1QTNF4	cis	Whole Blood	GTEx
rs7105282	C1QTNF4	cis	lung	GTEx
rs7105282	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs7105282	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs7105282	SPI1	cis	multi-tissue	Pritchard
rs7105282		cis	Lymphoblastoid	GTEx
rs7105282	Hs.6637	cis	multi-tissue	Pritchard
rs7105282	SPI1	cis	Lymphoblastoid	GTEx
rs7105282	C1QTNF4	cis	Muscle Skeletal	GTEx
rs7105282	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs7105282	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs7105282	C1QTNF4	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790000-47806800	Weak transcription	Esophagus	oesophagus
2	chr11:47790000-47837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:47790800-47832200	Weak transcription	Small Intestine	intestine
5	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
7	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:47795600-47808200	Strong transcription	Primary B cells from cord blood	blood
9	chr11:47795600-47810600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:47796000-47812800	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:47796000-47816800	Strong transcription	GM12878-XiMat	blood
12	chr11:47796200-47808200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:47796200-47810400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:47796200-47811200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:47796200-47813600	Strong transcription	Adipose Nuclei	Adipose
16	chr11:47796200-47834000	Strong transcription	Fetal Stomach	stomach
17	chr11:47796200-47837800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
21	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:47796400-47807400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:47796400-47814400	Strong transcription	Fetal Intestine Large	intestine
32	chr11:47796400-47824800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:47796400-47858800	Strong transcription	Liver	Liver
38	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:47796600-47810200	Strong transcription	Lung	lung
40	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
41	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
42	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:47796800-47809600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:47796800-47810200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:47796800-47810400	Strong transcription	Osteobl	bone
46	chr11:47796800-47811200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:47796800-47813200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:47796800-47813800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:47796800-47837600	Strong transcription	Dnd41	blood
50	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links