Variant report

Variant	rs7504575
Chromosome Location	chr18:12304703-12304704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr18:12304471-12304763	K562	blood:	n/a	chr18:12304617-12304630
2	MYC	chr18:12304442-12304715	K562	blood:	n/a	chr18:12304617-12304630
3	MAX	chr18:12304296-12304782	K562	blood:	n/a	chr18:12304617-12304630
4	E2F6	chr18:12304511-12304708	K562	blood:	n/a	n/a
5	MAX	chr18:12304492-12304734	K562	blood:	n/a	chr18:12304617-12304630

No.	Distal block	Cell Line	Cell type
1	chr18:12285640..12287691-chr18:12304617..12306840,2	MCF-7	breast:
2	chr18:12295731..12298495-chr18:12304376..12306859,2	MCF-7	breast:
3	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-170P	TF binding region
TUBB6	TF binding region
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10853224	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080567	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11267036	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11548177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11659246	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11660106	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11660222	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11663340	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11664255	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11664282	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12455756	0.88[EUR][1000 genomes]
rs12607250	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12607321	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12607378	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12954560	0.86[EUR][1000 genomes]
rs12959653	0.82[ASN][1000 genomes]
rs12959674	0.89[ASN][1000 genomes]
rs12960267	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12963761	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965912	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12970667	0.91[ASN][1000 genomes]
rs28625182	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34685983	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35242253	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796958	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796959	0.91[ASN][1000 genomes]
rs4796960	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796962	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796963	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4797672	0.83[ASN][1000 genomes]
rs4797673	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4797674	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4797675	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58136410	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61604633	0.89[EUR][1000 genomes]
rs62097556	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6505749	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505751	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7231304	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7233290	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7244254	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7244709	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7504558	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7504616	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7505208	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7505255	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7505626	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083882	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8087843	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098040	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098700	0.81[ASN][1000 genomes]
rs8099636	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303766	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303767	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303768	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9652931	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9807444	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9945901	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9946172	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9946217	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9946347	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9949054	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9954945	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9958069	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9958525	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9964163	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9966470	0.85[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7504575	TUBB6	cis	multi-tissue	Pritchard
rs7504575	MC1R///TUBB3	trans	lymphoblastoid	RTeQTL
rs7504575	TUBB6	cis	Whole Blood	GTEx
rs7504575	TUBB6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 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	chr18:12301600-12305200	Weak transcription	Esophagus	oesophagus
6	chr18:12301800-12306200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:12303000-12305200	Weak transcription	Fetal Heart	heart
8	chr18:12303000-12306000	Enhancers	K562	blood
9	chr18:12303200-12304800	Weak transcription	NHEK	skin
10	chr18:12303200-12305200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr18:12303200-12306000	Weak transcription	Placenta	Placenta
12	chr18:12303200-12306200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:12304400-12304800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:12304400-12304800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr18:12304400-12305200	Bivalent Enhancer	HepG2	liver
16	chr18:12304400-12305400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:12304400-12306200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:12304400-12306600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:12304400-12306600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:12304400-12306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:12304600-12305200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr18:12304600-12306400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:12304600-12307000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:12304600-12307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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