Variant report

Variant	rs7148741
Chromosome Location	chr14:21892165-21892166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21885310..21887748-chr14:21890138..21892937,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1008268	0.94[ASN][1000 genomes]
rs1008269	0.94[ASN][1000 genomes]
rs10132333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.94[ASN][1000 genomes]
rs10134108	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs10135022	1.00[ASN][1000 genomes]
rs10137743	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10138699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10139379	0.94[ASN][1000 genomes]
rs10143061	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs10146717	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs10150329	1.00[ASN][1000 genomes]
rs10151764	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[ASN][1000 genomes]
rs10438064	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10782384	0.94[ASN][1000 genomes]
rs11623599	0.94[ASN][1000 genomes]
rs11623642	0.91[ASN][1000 genomes]
rs11623737	0.96[ASN][1000 genomes]
rs11624716	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs12885503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1543494	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs1952554	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs1983768	0.94[ASN][1000 genomes]
rs1998330	0.98[ASN][1000 genomes]
rs1998331	0.91[ASN][1000 genomes]
rs1998332	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs2007434	0.94[ASN][1000 genomes]
rs2146062	0.94[ASN][1000 genomes]
rs2149749	0.82[ASN][1000 genomes]
rs2181125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2295865	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2295866	0.94[ASN][1000 genomes]
rs3762156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3762157	0.94[ASN][1000 genomes]
rs3762158	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs3762159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs4144189	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4246991	0.89[ASN][1000 genomes]
rs4982445	0.94[ASN][1000 genomes]
rs4982446	0.94[ASN][1000 genomes]
rs6571770	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6571797	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs6571826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7147024	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs7152833	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs7155123	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7160488	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs8004294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8004388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap]
rs8007893	0.98[ASN][1000 genomes]
rs8008670	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs8009789	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs8011945	1.00[ASN][1000 genomes]
rs8017451	0.80[ASN][1000 genomes]
rs8017630	0.83[ASN][1000 genomes]
rs8018369	0.94[ASN][1000 genomes]
rs8020149	0.94[ASN][1000 genomes]
rs8022395	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs8022755	0.94[ASN][1000 genomes]
rs927412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9322978	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers 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 miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers 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 target site	37 gene(s)	inside rSNPs	diseases
11	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers 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	50 gene(s)	inside rSNPs	diseases
13	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7148741	REM2	cis	cerebellum	SCAN
rs7148741	MDP1	cis	parietal	SCAN
rs7148741	PPP1R3E	cis	cerebellum	SCAN
rs7148741	TOX4	Cis_1M	lymphoblastoid	RTeQTL
rs7148741	PNP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21853200-21904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21853400-21900000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:21853400-21900000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:21853400-21900000	Strong transcription	Adipose Nuclei	Adipose
5	chr14:21853400-21900000	Strong transcription	Placenta	Placenta
6	chr14:21853400-21900200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:21853400-21901800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:21853600-21897200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr14:21853600-21900000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:21853600-21900200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:21853600-21900200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:21853600-21901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:21853600-21902000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:21853600-21903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:21853800-21900000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:21853800-21900000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:21853800-21900200	Strong transcription	Fetal Thymus	thymus
18	chr14:21853800-21901400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:21854000-21900200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:21854000-21904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:21854400-21900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:21854400-21900200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:21855200-21900200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:21855600-21897000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:21855600-21899200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:21855800-21900200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:21855800-21900200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:21856000-21900000	Strong transcription	Liver	Liver
29	chr14:21856000-21900200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr14:21856200-21899800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:21856400-21900800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:21856600-21900000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:21856800-21900000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:21857000-21900800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:21874000-21900400	Strong transcription	HUVEC	blood vessel
36	chr14:21877000-21900000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:21877200-21900800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:21877600-21896200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:21877600-21900200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:21879600-21904200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:21880600-21900200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:21883400-21894400	Strong transcription	Fetal Intestine Small	intestine
43	chr14:21883400-21894400	Strong transcription	Fetal Stomach	stomach
44	chr14:21884000-21895000	Weak transcription	Fetal Heart	heart
45	chr14:21885400-21900400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr14:21885400-21903000	Strong transcription	Primary T cells from cord blood	blood
47	chr14:21886000-21897200	Strong transcription	Brain Germinal Matrix	brain
48	chr14:21886000-21900000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:21886200-21900200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr14:21886400-21897200	Strong transcription	Fetal Muscle Leg	muscle

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