Variant report

Variant	rs11081472
Chromosome Location	chr18:9335743-9335744
allele	C/T
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	CHD1	chr18:9334769-9335746	GM12878	blood:	n/a	chr18:9334809-9334819
2	UBTF	chr18:9334580-9335768	K562	blood:	n/a	n/a
3	MAZ	chr18:9333739-9335781	IMR90	lung:	n/a	n/a
4	RAD21	chr18:9334083-9335743	IMR90	lung:	n/a	chr18:9335316-9335328
5	EBF1	chr18:9335271-9335791	GM12878	blood:	n/a	n/a
6	CHD1	chr18:9333658-9335948	IMR90	lung:	n/a	chr18:9334809-9334819
7	MXI1	chr18:9333668-9335795	IMR90	lung:	n/a	n/a
8	MXI1	chr18:9333886-9335935	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
2	chr18:9334537..9336244-chr18:9518482..9520647,3	K562	blood:
3	chr18:9321590..9324393-chr18:9335176..9336771,2	K562	blood:
4	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
5	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

Variant related genes	Relation type
ENSG00000264964	TF binding region
ENSG00000017797	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000273352	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11875065	1.00[ASW][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap]
rs12455538	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16954989	1.00[ASW][hapmap];0.88[MEX][hapmap];0.81[YRI][hapmap]
rs16954996	1.00[ASW][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs16955061	0.84[AMR][1000 genomes]
rs2902839	0.85[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs34741369	0.81[AFR][1000 genomes]
rs56376849	0.81[EUR][1000 genomes]
rs6506656	0.85[ASW][hapmap]
rs7229150	1.00[ASW][hapmap];0.86[MKK][hapmap];0.80[YRI][hapmap]
rs7242593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7243117	0.80[YRI][hapmap]
rs8083808	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	esv3374659	chr18:9333577-9336325	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11081472	TWSG1	cis	Esophagus Mucosa	GTEx
rs11081472	TWSG1	cis	Artery Tibial	GTEx
rs11081472	TWSG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9333400-9336400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:9333600-9335800	Active TSS	Esophagus	oesophagus
3	chr18:9333600-9336000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:9333600-9336000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9333600-9336000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:9333600-9336000	Active TSS	A549	lung
7	chr18:9333600-9336000	Active TSS	Osteobl	bone
8	chr18:9333600-9336200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9333600-9336200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:9333600-9336200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:9333600-9336200	Active TSS	NHDF-Ad	bronchial
12	chr18:9333600-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:9333600-9336400	Active TSS	NHLF	lung
14	chr18:9333800-9335800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:9333800-9335800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr18:9333800-9335800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr18:9333800-9335800	Active TSS	Colon Smooth Muscle	Colon
18	chr18:9333800-9335800	Active TSS	Fetal Brain Female	brain
19	chr18:9333800-9335800	Active TSS	Fetal Intestine Large	intestine
20	chr18:9333800-9335800	Active TSS	Fetal Lung	lung
21	chr18:9333800-9335800	Active TSS	Psoas Muscle	Psoas
22	chr18:9333800-9335800	Active TSS	Right Atrium	heart
23	chr18:9333800-9335800	Active TSS	Right Ventricle	heart
24	chr18:9333800-9336000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:9333800-9336000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr18:9333800-9336000	Active TSS	HSMMtube	muscle
27	chr18:9333800-9336200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:9333800-9336200	Active TSS	Aorta	Aorta
29	chr18:9333800-9336200	Active TSS	Ovary	ovary
30	chr18:9333800-9336200	Active TSS	HSMM	muscle
31	chr18:9334000-9335800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:9334000-9335800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:9334000-9335800	Active TSS	Lung	lung
34	chr18:9334000-9336000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:9334000-9336000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:9334000-9337000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:9334200-9336000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr18:9334200-9336000	Active TSS	Fetal Muscle Trunk	muscle
39	chr18:9334200-9336000	Active TSS	Fetal Muscle Leg	muscle
40	chr18:9334200-9336000	Active TSS	NH-A	brain
41	chr18:9334200-9336200	Active TSS	Fetal Stomach	stomach
42	chr18:9334200-9337000	Active TSS	GM12878-XiMat	blood
43	chr18:9334400-9335800	Active TSS	Placenta	Placenta
44	chr18:9334400-9335800	Active TSS	Fetal Thymus	thymus
45	chr18:9334400-9336000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr18:9334400-9336000	Active TSS	HMEC	breast
47	chr18:9334400-9336400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:9334400-9336400	Active TSS	Stomach Smooth Muscle	stomach
49	chr18:9334400-9336600	Active TSS	K562	blood
50	chr18:9335000-9335800	Flanking Active TSS	Primary B cells from cord blood	blood

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