Variant report

Variant	rs58262791
Chromosome Location	chr14:37664478-37664479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr14:37664336-37664850	HUVEC	blood vessel:	n/a	n/a
2	ZNF263	chr14:37663885-37664756	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr14:37664398-37664936	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr14:37664396-37665057	HUVEC	blood vessel:	n/a	n/a
5	JUN	chr14:37663956-37664987	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr14:37664353-37664967	HUVEC	blood vessel:	n/a	n/a
7	FOXA1	chr14:37664437-37665013	HepG2	liver:	n/a	n/a
8	FOS	chr14:37663943-37664987	HUVEC	blood vessel:	n/a	n/a
9	ARID3A	chr14:37664464-37664897	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37662314..37664941-chr14:37664960..37666969,2	K562	blood:
2	chr14:37639617..37644848-chr14:37662875..37669924,15	K562	blood:
3	chr14:37639061..37645694-chr14:37661777..37669317,18	MCF-7	breast:
4	chr14:37641298..37642813-chr14:37662827..37664578,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIPOL1	TF binding region
ENSG00000258708	Chromatin interaction
ENSG00000183032	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10130026	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10134334	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140952	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483487	0.83[AMR][1000 genomes]
rs10483488	0.85[EUR][1000 genomes]
rs12100470	0.85[EUR][1000 genomes]
rs12101262	0.85[EUR][1000 genomes]
rs12588348	0.88[ASN][1000 genomes]
rs17106324	0.83[AMR][1000 genomes]
rs17106327	0.85[EUR][1000 genomes]
rs17106328	0.83[AMR][1000 genomes]
rs17106343	0.85[EUR][1000 genomes]
rs17106358	0.83[AMR][1000 genomes]
rs17106368	0.85[EUR][1000 genomes]
rs17106374	0.85[EUR][1000 genomes]
rs17106381	0.85[EUR][1000 genomes]
rs17106401	0.83[AMR][1000 genomes]
rs17106410	0.85[EUR][1000 genomes]
rs17106412	0.83[AMR][1000 genomes]
rs17106466	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106483	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17106486	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955759	0.83[AMR][1000 genomes]
rs1956513	0.82[AFR][1000 genomes]
rs2180094	0.83[AMR][1000 genomes]
rs2415387	0.85[EUR][1000 genomes]
rs4900688	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4906577	0.83[AMR][1000 genomes]
rs56905022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56933807	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57235476	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57291540	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843803	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58473518	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59508104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59740956	0.87[AFR][1000 genomes]
rs60439332	0.83[AMR][1000 genomes]
rs60853724	0.83[AMR][1000 genomes]
rs60921013	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66496057	0.85[EUR][1000 genomes]
rs66862591	0.85[EUR][1000 genomes]
rs7140725	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143172	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143753	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145914	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149379	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151756	0.85[EUR][1000 genomes]
rs72669537	0.83[AMR][1000 genomes]
rs72669543	0.83[AMR][1000 genomes]
rs72669551	0.83[AMR][1000 genomes]
rs72669558	0.83[AMR][1000 genomes]
rs72669566	0.81[AMR][1000 genomes]
rs72669579	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72669586	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72669588	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72669600	0.92[EUR][1000 genomes]
rs72669602	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007988	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015791	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9672074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672077	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3367731	chr14:37642250-37668518	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37657400-37666600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:37657800-37666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:37663800-37666400	Enhancers	HUVEC	blood vessel
4	chr14:37664000-37664600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:37664000-37664800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:37664000-37665000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:37664000-37666000	Enhancers	Stomach Mucosa	stomach
8	chr14:37664000-37666200	Enhancers	HepG2	liver
9	chr14:37664200-37664800	Enhancers	K562	blood
10	chr14:37664200-37664800	Enhancers	NHLF	lung
11	chr14:37664200-37665000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:37664400-37664600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:37664400-37664600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:37664400-37664800	Enhancers	HMEC	breast
15	chr14:37664400-37664800	Enhancers	NHEK	skin
16	chr14:37664400-37666200	Enhancers	NHDF-Ad	bronchial

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