Variant report

Variant	rs10734557
Chromosome Location	chr11:47380061-47380062
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:47372212..47375004-chr11:47380040..47382047,2	MCF-7	breast:
2	chr11:47380057..47381801-chr11:47388110..47390294,2	K562	blood:
3	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
4	chr11:47284615..47286154-chr11:47378309..47380151,2	MCF-7	breast:
5	chr11:47379032..47381068-chr11:47385092..47386815,2	MCF-7	breast:
6	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
7	chr11:47195702..47198669-chr11:47379540..47381275,2	K562	blood:
8	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
9	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134571	Chromatin interaction
ENSG00000149182	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1057233	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10742803	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10769258	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769262	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10838698	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838699	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838704	0.84[EUR][1000 genomes]
rs10838706	0.89[EUR][1000 genomes]
rs11039195	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039199	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039200	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039202	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11039203	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11039219	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11600581	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11601603	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11605672	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11607981	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12146565	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12802273	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12803525	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1317164	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1542321	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053979	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2053980	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2071304	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2084946	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293577	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293578	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2293580	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2856661	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35496532	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35996350	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3740688	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3781624	0.81[EUR][1000 genomes]
rs3781625	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3781626	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4752827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752987	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752990	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4752993	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4752994	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4752999	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4992357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55677087	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55876153	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55927797	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56030824	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58965622	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60075622	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6485753	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67116452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67472071	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7105851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107726	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7111957	0.80[EUR][1000 genomes]
rs755553	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs755554	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs755555	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7924485	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7928163	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7928419	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7937331	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7940536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs896815	0.83[EUR][1000 genomes]
rs896816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs935914	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv3337151	chr11:47376276-47380074	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3439899	chr11:47376276-47381174	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3440608	chr11:47379026-47381524	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10734557	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs10734557	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs10734557	SPI1	cis	multi-tissue	Pritchard

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
5	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
7	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
9	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
10	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:47377400-47380400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr11:47377600-47380200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:47377600-47380800	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:47377600-47381000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:47377600-47381000	Weak transcription	Placenta	Placenta
16	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:47377800-47380200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:47377800-47380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart
23	chr11:47377800-47382800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47378000-47380200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:47378000-47381400	Weak transcription	Colonic Mucosa	Colon
26	chr11:47378200-47380200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:47378400-47380200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr11:47378400-47381400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:47378600-47381400	Weak transcription	Pancreas	Pancrea
30	chr11:47378600-47382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47378800-47381600	Weak transcription	Fetal Lung	lung
32	chr11:47378800-47381800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:47379400-47380200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr11:47379600-47380400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:47379600-47380400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:47379600-47380400	Strong transcription	GM12878-XiMat	blood
38	chr11:47379600-47381000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:47379800-47380200	Genic enhancers	Brain Anterior Caudate	brain
40	chr11:47379800-47380200	Weak transcription	Gastric	stomach
41	chr11:47379800-47380400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:47379800-47380400	ZNF genes & repeats	Lung	lung
43	chr11:47379800-47380600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:47379800-47380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:47379800-47382000	Genic enhancers	Spleen	Spleen
46	chr11:47380000-47380200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:47380000-47380600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:47380000-47382000	Enhancers	Right Ventricle	heart
49	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus

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