Variant report

Variant	rs4246991
Chromosome Location	chr14:21915516-21915517
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	chr14:21913845..21918012-chr14:21919137..21925327,7	MCF-7	breast:
2	chr14:21901445..21907192-chr14:21911420..21916597,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1008268	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1008269	0.84[ASN][1000 genomes]
rs10132333	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10134108	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10135022	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10137743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10138699	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10139379	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10143061	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10146717	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10150329	0.89[ASN][1000 genomes]
rs10151764	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10782384	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11623599	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623642	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11623737	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624716	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12885503	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1543494	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1952554	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983768	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1998330	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998331	0.81[ASN][1000 genomes]
rs1998332	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2007434	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2065096	0.83[AMR][1000 genomes]
rs2146062	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2149749	0.82[ASN][1000 genomes]
rs2181125	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2295866	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3762156	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3762157	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3762158	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3762159	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4144189	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4982445	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4982446	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571770	0.81[AMR][1000 genomes]
rs6571797	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571826	0.89[ASN][1000 genomes]
rs7147024	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148741	0.89[ASN][1000 genomes]
rs7152833	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7155123	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7160488	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8004294	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8004388	0.85[AMR][1000 genomes]
rs8007893	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8008670	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8009789	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8011945	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8017630	0.83[AMR][1000 genomes]
rs8018369	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8020149	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8022395	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8022755	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs927412	0.81[AMR][1000 genomes];0.84[ASN][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
rs4246991	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
2	chr14:21906200-21916400	Weak transcription	GM12878-XiMat	blood
3	chr14:21906200-21916600	Weak transcription	Small Intestine	intestine
4	chr14:21906200-21917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:21906200-21917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:21906200-21917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:21906200-21917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:21906200-21917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:21906200-21917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:21906200-21918000	Weak transcription	HUVEC	blood vessel
11	chr14:21906200-21918600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:21906200-21918600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:21906200-21918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:21906200-21918600	Weak transcription	NH-A	brain
15	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
19	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
22	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:21906200-21921600	Weak transcription	NHLF	lung
24	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
25	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
26	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:21906200-21922400	Weak transcription	Osteobl	bone
28	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
29	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
30	chr14:21906400-21916000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:21906400-21916200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21906400-21916800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:21906400-21917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:21906400-21917600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:21906400-21917600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:21906400-21917800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:21906400-21919800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:21906400-21920000	Weak transcription	Fetal Stomach	stomach
39	chr14:21906400-21920200	Weak transcription	Fetal Intestine Small	intestine
40	chr14:21906400-21920600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:21906400-21921200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:21906400-21921800	Weak transcription	HSMM	muscle
43	chr14:21906400-21922200	Weak transcription	Brain Germinal Matrix	brain
44	chr14:21906400-21922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:21906400-21922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:21906400-21922400	Weak transcription	Placenta	Placenta
47	chr14:21906400-21922400	Weak transcription	Fetal Thymus	thymus
48	chr14:21906400-21922400	Weak transcription	Gastric	stomach
49	chr14:21906400-21922400	Weak transcription	Left Ventricle	heart
50	chr14:21906400-21922400	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links