Variant report

Variant	rs62367685
Chromosome Location	chr5:43001318-43001319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42998105..43003044-chr5:43016342..43020590,4	MCF-7	breast:
2	chr5:42999330..43002712-chr5:43065180..43068954,4	MCF-7	breast:
3	chr5:43000319..43003072-chr5:43066498..43069260,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1032434	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10454865	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941607	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10941608	0.94[ASN][1000 genomes]
rs11550285	0.94[ASN][1000 genomes]
rs11550286	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11550287	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11740797	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742691	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743246	0.82[ASN][1000 genomes]
rs11747015	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11748187	0.95[ASN][1000 genomes]
rs11750239	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11949817	0.95[ASN][1000 genomes]
rs11954543	0.82[ASN][1000 genomes]
rs11956243	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12188691	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13155513	0.95[ASN][1000 genomes]
rs13159703	0.93[ASN][1000 genomes]
rs13165504	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13169563	0.93[ASN][1000 genomes]
rs13173064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301375	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452831	0.95[ASN][1000 genomes]
rs316398	0.82[ASN][1000 genomes]
rs316405	0.95[ASN][1000 genomes]
rs316409	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs316410	0.95[ASN][1000 genomes]
rs316411	0.86[ASN][1000 genomes]
rs316418	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3207358	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34087147	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34315422	0.90[ASN][1000 genomes]
rs34492794	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34670023	0.89[ASN][1000 genomes]
rs34808919	0.95[ASN][1000 genomes]
rs34859360	0.90[ASN][1000 genomes]
rs35085573	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35541316	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36039989	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36083302	0.90[ASN][1000 genomes]
rs3733839	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3797312	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3849698	0.82[ASN][1000 genomes]
rs3849699	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs493097	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs504404	0.84[ASN][1000 genomes]
rs55939188	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56169202	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs581914	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367688	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62372869	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs670206	0.93[ASN][1000 genomes]
rs6859096	0.80[ASN][1000 genomes]
rs6864223	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7727892	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7729529	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9790935	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
14	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62367685	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42997200-43007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:42998600-43006400	Weak transcription	Dnd41	blood
3	chr5:43000000-43001400	Flanking Active TSS	NHEK	skin
4	chr5:43000200-43001400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr5:43000200-43001400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr5:43000400-43006400	Weak transcription	K562	blood
7	chr5:43000600-43001400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:43000600-43001400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:43000600-43001400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:43000800-43001600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr5:43000800-43007000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:43001000-43001400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:43001000-43001400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:43001000-43001400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr5:43001000-43001400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:43001000-43001400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:43001000-43001400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:43001000-43001400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:43001000-43001400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr5:43001000-43001400	Active TSS	Right Atrium	heart
21	chr5:43001000-43001400	Flanking Active TSS	A549	lung
22	chr5:43001000-43001400	Flanking Active TSS	HepG2	liver
23	chr5:43001000-43001400	Enhancers	HMEC	breast
24	chr5:43001000-43001400	Enhancers	NH-A	brain
25	chr5:43001000-43001400	Enhancers	NHLF	lung
26	chr5:43001000-43001600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr5:43001000-43001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:43001000-43001600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43001000-43006400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:43001000-43006600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:43001000-43007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:43001000-43007600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:43001200-43001400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr5:43001200-43001400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr5:43001200-43001400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr5:43001200-43001400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:43001200-43001600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:43001200-43001600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:43001200-43001600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:43001200-43001800	Enhancers	Primary T cells from cord blood	blood
41	chr5:43001200-43006600	Weak transcription	HUVEC	blood vessel

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