Variant report

Variant	rs2149749
Chromosome Location	chr14:21909904-21909905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21907272..21910219-chr14:21916395..21918950,2	K562	blood:
2	chr14:21908706..21910690-chr14:21978697..21980987,2	MCF-7	breast:
3	chr14:21907278..21910254-chr14:21912129..21914781,3	K562	blood:
4	chr14:21908719..21910349-chr14:21917450..21919306,2	K562	blood:
5	chr14:21904205..21907170-chr14:21908255..21911608,3	K562	blood:
6	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
7	chr14:21907423..21910999-chr14:21920939..21926242,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1008268	0.81[AMR][1000 genomes]
rs10132333	0.87[AMR][1000 genomes]
rs10134108	0.82[ASN][1000 genomes]
rs10135022	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10137743	0.81[ASN][1000 genomes]
rs10139379	0.83[AMR][1000 genomes]
rs10143061	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10150329	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11623642	0.81[AMR][1000 genomes]
rs11624716	0.81[ASN][1000 genomes]
rs1952554	0.82[ASN][1000 genomes]
rs1998330	0.81[ASN][1000 genomes]
rs1998332	0.81[ASN][1000 genomes]
rs2007434	0.83[AMR][1000 genomes]
rs2065096	0.81[AMR][1000 genomes]
rs2146062	0.83[AMR][1000 genomes]
rs2295865	0.85[AMR][1000 genomes]
rs3762156	0.83[AMR][1000 genomes]
rs3762157	0.87[AMR][1000 genomes]
rs3762158	0.83[AMR][1000 genomes]
rs3762159	0.81[ASN][1000 genomes]
rs4144189	0.81[ASN][1000 genomes]
rs4246991	0.82[ASN][1000 genomes]
rs4982445	0.87[AMR][1000 genomes]
rs6571770	0.87[AMR][1000 genomes]
rs6571826	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7147024	0.82[ASN][1000 genomes]
rs7148741	0.82[ASN][1000 genomes]
rs7152833	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7155123	0.82[ASN][1000 genomes]
rs7160488	0.83[AMR][1000 genomes]
rs8007893	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8008670	0.83[AMR][1000 genomes]
rs8009789	0.83[AMR][1000 genomes]
rs8011945	0.82[ASN][1000 genomes]
rs8017630	0.81[AMR][1000 genomes]
rs8018369	0.83[AMR][1000 genomes]
rs8020149	0.83[AMR][1000 genomes]
rs8022395	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8022755	0.83[AMR][1000 genomes]
rs927412	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2149749	TOX4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21905600-21910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21906000-21910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
4	chr14:21906200-21910000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:21906200-21912000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:21906200-21914800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:21906200-21916400	Weak transcription	GM12878-XiMat	blood
8	chr14:21906200-21916600	Weak transcription	Small Intestine	intestine
9	chr14:21906200-21917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:21906200-21917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:21906200-21917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:21906200-21917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:21906200-21917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:21906200-21917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:21906200-21918000	Weak transcription	HUVEC	blood vessel
16	chr14:21906200-21918600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:21906200-21918600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:21906200-21918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:21906200-21918600	Weak transcription	NH-A	brain
20	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
24	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
27	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:21906200-21921600	Weak transcription	NHLF	lung
29	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
30	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
31	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:21906200-21922400	Weak transcription	Osteobl	bone
33	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
34	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
35	chr14:21906400-21910200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:21906400-21910200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:21906400-21910200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:21906400-21910800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:21906400-21914600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:21906400-21915200	Weak transcription	Primary T cells from cord blood	blood
41	chr14:21906400-21915200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:21906400-21915400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:21906400-21916000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:21906400-21916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:21906400-21916800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:21906400-21917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:21906400-21917600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:21906400-21917600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:21906400-21917800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:21906400-21919800	Weak transcription	Primary B cells from peripheral blood	blood

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