Variant report

Variant	rs67276048
Chromosome Location	chr4:119552849-119552850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10004322	0.85[EUR][1000 genomes]
rs10022024	0.85[EUR][1000 genomes]
rs10031029	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12331454	0.82[EUR][1000 genomes]
rs12651650	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13137401	0.84[EUR][1000 genomes]
rs2389780	0.81[EUR][1000 genomes]
rs28448851	0.81[EUR][1000 genomes]
rs34016523	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34766719	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35183273	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35731099	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67655207	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6833597	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6855978	0.95[ASN][1000 genomes]
rs71241793	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71610221	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7656990	0.85[EUR][1000 genomes]
rs7689541	0.83[EUR][1000 genomes]
rs9760578	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv980251	chr4:119510579-119563981	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1824927	chr4:119521936-119577466	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv966369	chr4:119539088-119559938	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1822873	chr4:119542500-119577466	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv16226	chr4:119552399-119584340	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs67276048	RP11-384K6.6	cis	Skin Sun Exposed Lower leg	GTEx
rs67276048	RP11-384K6.6	cis	Whole Blood	GTEx
rs67276048	RP11-384K6.6	cis	Adipose Subcutaneous	GTEx
rs67276048	RP11-384K6.6	cis	Artery Tibial	GTEx
rs67276048	RP11-384K6.6	cis	lung	GTEx
rs67276048	RP11-384K6.2	cis	Adipose Subcutaneous	GTEx
rs67276048	RP11-384K6.2	cis	Whole Blood	GTEx
rs67276048	RP11-384K6.2	cis	Skin Sun Exposed Lower leg	GTEx
rs67276048	RP11-384K6.6	cis	Thyroid	GTEx
rs67276048	RP11-384K6.6	cis	Esophagus Mucosa	GTEx
rs67276048	RP11-384K6.6	cis	Esophagus Muscularis	GTEx
rs67276048	RP11-384K6.2	cis	Nerve Tibial	GTEx
rs67276048	RP11-384K6.2	cis	Artery Tibial	GTEx
rs67276048	RP11-384K6.6	cis	Nerve Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119513400-119554000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:119513400-119554800	Weak transcription	Ovary	ovary
3	chr4:119513400-119557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:119513600-119554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:119513600-119555800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:119513600-119559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:119513800-119555000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:119513800-119556000	Weak transcription	Fetal Lung	lung
9	chr4:119518800-119557000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:119519800-119559000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:119526000-119556200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:119527800-119555800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:119528800-119558000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:119538600-119555200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:119542000-119557200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:119542600-119554400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:119544600-119554600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:119547400-119555600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:119548800-119554600	Strong transcription	Liver	Liver
20	chr4:119549000-119554800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:119549000-119554800	Weak transcription	NH-A	brain
22	chr4:119549000-119556000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:119549200-119553600	Strong transcription	Fetal Muscle Leg	muscle
24	chr4:119549200-119555800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:119549200-119555800	Strong transcription	Spleen	Spleen
26	chr4:119549200-119557800	Strong transcription	Fetal Stomach	stomach
27	chr4:119549400-119553000	Strong transcription	Fetal Intestine Large	intestine
28	chr4:119549400-119556600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:119549600-119557600	Strong transcription	Fetal Intestine Small	intestine
30	chr4:119550000-119555800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:119550200-119554000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:119550200-119554000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:119550200-119555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:119550200-119555800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:119550200-119555800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:119550200-119556800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:119550400-119553400	Strong transcription	Fetal Thymus	thymus
38	chr4:119550400-119553600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr4:119550400-119553600	Strong transcription	Thymus	Thymus
40	chr4:119550400-119556000	Strong transcription	Gastric	stomach
41	chr4:119550400-119559000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:119550600-119553400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:119550600-119555800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:119550800-119553200	Strong transcription	Left Ventricle	heart
45	chr4:119550800-119554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:119551000-119553200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:119551000-119553200	Strong transcription	Esophagus	oesophagus
48	chr4:119551000-119553400	Strong transcription	Pancreas	Pancrea
49	chr4:119551200-119553400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:119551200-119553400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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