Variant report

Variant	rs9951945
Chromosome Location	chr18:12303023-12303024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr18:12302425-12303072	K562	blood:	n/a	n/a
2	USF1	chr18:12302555-12303083	K562	blood:	n/a	n/a
3	ZBTB7A	chr18:12302878-12303206	K562	blood:	n/a	n/a
4	E2F6	chr18:12302790-12303090	K562	blood:	n/a	n/a
5	GTF2F1	chr18:12302995-12303038	K562	blood:	n/a	n/a
6	GATA2	chr18:12302454-12303027	K562	blood:	n/a	n/a
7	NR2F2	chr18:12302265-12303205	K562	blood:	n/a	n/a
8	MAZ	chr18:12302458-12303028	K562	blood:	n/a	n/a
9	TEAD4	chr18:12302296-12303086	K562	blood:	n/a	n/a
10	MYC	chr18:12302449-12303188	K562	blood:	n/a	n/a
11	RCOR1	chr18:12303003-12303055	K562	blood:	n/a	n/a
12	USF1	chr18:12302428-12303103	K562	blood:	n/a	n/a
13	SMC3	chr18:12302919-12303119	K562	blood:	n/a	n/a
14	BHLHE40	chr18:12302440-12303122	K562	blood:	n/a	n/a
15	MXI1	chr18:12302560-12303090	K562	blood:	n/a	n/a
16	MAX	chr18:12302464-12303098	K562	blood:	n/a	n/a
17	E2F6	chr18:12302284-12303137	K562	blood:	n/a	n/a
18	MAX	chr18:12302830-12303187	K562	blood:	n/a	n/a
19	POLR2A	chr18:12302069-12303216	K562	blood:	n/a	n/a
20	GATA1	chr18:12302350-12303246	PBDE	blood:	n/a	n/a
21	TAL1	chr18:12302369-12303152	K562	blood:	n/a	n/a
22	MYC	chr18:12302487-12303095	K562	blood:	n/a	n/a
23	MAX	chr18:12302264-12303257	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12270534..12272784-chr18:12301768..12304074,2	K562	blood:
2	chr18:12300999..12303281-chr18:12308137..12310057,2	MCF-7	breast:

No data

Variant related genes	Relation type
TUBB6	TF binding region
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459999	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460000	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460001	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11080564	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11080565	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11080569	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11080571	0.80[AMR][1000 genomes]
rs1129115	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11665134	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12455770	0.81[EUR][1000 genomes]
rs12456857	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12954686	0.80[AMR][1000 genomes]
rs12968566	0.80[AMR][1000 genomes]
rs34829762	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35338639	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4796961	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796964	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62098961	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7504908	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7504974	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7505834	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8086821	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8086993	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8087840	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8092506	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9946698	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9951945	TUBB6	cis	Whole Blood	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12289000-12304800	Weak transcription	Pancreas	Pancrea
2	chr18:12289200-12306400	Weak transcription	Right Atrium	heart
3	chr18:12289400-12306400	Weak transcription	NHLF	lung
4	chr18:12294400-12306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12301600-12303200	Enhancers	Placenta	Placenta
6	chr18:12301600-12305200	Weak transcription	Esophagus	oesophagus
7	chr18:12301800-12306200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:12302000-12303200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:12302000-12303200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr18:12302200-12303200	Bivalent Enhancer	HepG2	liver
11	chr18:12302400-12303200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:12302400-12303200	Enhancers	NHEK	skin
13	chr18:12302600-12303200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:12302600-12304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:12303000-12304400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:12303000-12305200	Weak transcription	Fetal Heart	heart
17	chr18:12303000-12306000	Enhancers	K562	blood

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