Variant report

Variant	rs7229921
Chromosome Location	chr18:12283547-12283548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr18:12283355-12283704	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr18:12283180-12283563	IMR90	lung:	n/a	n/a
3	RCOR1	chr18:12283186-12284025	K562	blood:	n/a	n/a
4	FOS	chr18:12283307-12283709	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr18:12283165-12283571	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:12282960-12283666	A549	lung:	n/a	n/a
7	FOS	chr18:12283308-12283713	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr18:12283509-12283682	MCF10A-Er-Src	breast:	n/a	n/a
9	ELF1	chr18:12283152-12283551	K562	blood:	n/a	chr18:12283373-12283386
10	ZNF384	chr18:12283172-12283940	K562	blood:	n/a	n/a
11	CTCF	chr18:12283137-12283555	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr18:12283130-12283618	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr18:12283093-12283667	K562	blood:	n/a	n/a
14	CTCF	chr18:12283140-12283562	K562	blood:	n/a	n/a
15	MAX	chr18:12283115-12283547	K562	blood:	n/a	n/a
16	MYC	chr18:12283228-12284081	K562	blood:	n/a	n/a
17	JUND	chr18:12283232-12283958	K562	blood:	n/a	n/a
18	RAD21	chr18:12283022-12283707	HCT-116	colon:	n/a	n/a
19	RAD21	chr18:12283145-12283615	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr18:12283009-12283644	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12281847..12285413-chr18:12286066..12289370,4	MCF-7	breast:
2	chr18:12282293..12284100-chr18:12288664..12290381,2	MCF-7	breast:
3	chr18:12281440..12284374-chr18:12307536..12311164,3	K562	blood:
4	chr18:12282475..12288140-chr18:12305542..12311210,9	K562	blood:
5	chr18:12283381..12284992-chr18:12702355..12703907,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267069	TF binding region
ENSG00000128789	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000267069	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3786261	0.81[JPT][hapmap]
rs56173210	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58511967	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7228252	0.81[JPT][hapmap]

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	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7229921	TUBB6	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:12279600-12284200	Enhancers	Placenta	Placenta
3	chr18:12279600-12287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:12279800-12284200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:12280000-12284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:12280000-12287400	Weak transcription	Right Atrium	heart
7	chr18:12280000-12287800	Weak transcription	Ovary	ovary
8	chr18:12280400-12287400	Weak transcription	Adipose Nuclei	Adipose
9	chr18:12280400-12287600	Weak transcription	Aorta	Aorta
10	chr18:12280400-12287600	Weak transcription	Lung	lung
11	chr18:12280800-12284400	Enhancers	Fetal Heart	heart
12	chr18:12281400-12284600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:12281600-12283600	Enhancers	NHDF-Ad	bronchial
14	chr18:12281600-12284000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12281600-12284000	Enhancers	HUVEC	blood vessel
16	chr18:12281800-12284000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:12281800-12287000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr18:12281800-12287400	Weak transcription	Left Ventricle	heart
19	chr18:12282800-12283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:12282800-12284800	Enhancers	K562	blood
21	chr18:12283000-12284000	Enhancers	HSMMtube	muscle
22	chr18:12283000-12284000	Enhancers	NHEK	skin
23	chr18:12283000-12286800	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:12283000-12287000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:12283000-12287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:12283000-12287200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:12283000-12287200	Weak transcription	Right Ventricle	heart
28	chr18:12283000-12287200	Weak transcription	Hela-S3	cervix
29	chr18:12283200-12283600	Enhancers	HSMM	muscle
30	chr18:12283200-12286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr18:12283200-12287200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:12283200-12287200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:12283200-12287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:12283200-12287400	Weak transcription	Osteobl	bone
35	chr18:12283200-12287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:12283400-12283800	Weak transcription	NHLF	lung
37	chr18:12283400-12284400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:12283400-12285000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:12283400-12287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:12283400-12287000	Weak transcription	HMEC	breast
41	chr18:12283400-12287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr18:12283400-12287200	Weak transcription	NH-A	brain

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