Variant report

Variant	rs11659295
Chromosome Location	chr18:8230017-8230018
allele	A/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	chr18:8229831-8230139	MCF10A-Er-Src	breast:	n/a	chr18:8229949-8229958
2	CEBPB	chr18:8229771-8230192	MCF-7	breast:	n/a	n/a
3	STAT3	chr18:8229860-8230164	MCF10A-Er-Src	breast:	n/a	chr18:8229948-8229957
4	STAT3	chr18:8229839-8230127	MCF10A-Er-Src	breast:	n/a	chr18:8229948-8229957
5	E2F4	chr18:8229575-8230155	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr18:8229574-8230126	MCF10A-Er-Src	breast:	n/a	chr18:8229949-8229958
7	JUND	chr18:8229824-8230046	HepG2	liver:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229947-8229958 chr18:8229948-8229957 chr18:8229947-8229959
8	FOS	chr18:8229768-8230171	MCF10A-Er-Src	breast:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229948-8229957 chr18:8229947-8229959
9	GATA3	chr18:8229816-8230121	MCF-7	breast:	n/a	n/a
10	FOS	chr18:8229767-8230143	MCF10A-Er-Src	breast:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229948-8229957 chr18:8229947-8229959
11	FOS	chr18:8229751-8230147	MCF10A-Er-Src	breast:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229948-8229957 chr18:8229947-8229959
12	FOSL2	chr18:8229773-8230164	MCF-7	breast:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229948-8229957 chr18:8229947-8229959
13	FOS	chr18:8229767-8230142	MCF10A-Er-Src	breast:	n/a	chr18:8229950-8229961 chr18:8229949-8229958 chr18:8229948-8229957 chr18:8229947-8229959

Variant related genes	Relation type
ENSG00000212067	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1005034	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10853361	0.86[ASN][1000 genomes]
rs1117758	0.81[CHB][hapmap];0.86[YRI][hapmap]
rs11659503	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454501	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12605453	0.83[CHB][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap]
rs12607046	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs12607050	0.83[CHB][hapmap];0.86[LWK][hapmap]
rs13381444	0.83[CHB][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap]
rs13381650	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935751	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935752	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399594	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4399595	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4405615	0.89[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs4563098	0.86[ASN][1000 genomes]
rs4992032	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61506273	0.86[ASN][1000 genomes]
rs61705599	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62091309	0.80[ASN][1000 genomes]
rs6506559	0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7226765	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7230057	0.84[YRI][hapmap]
rs7238009	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7238296	0.83[CHB][hapmap];0.86[LWK][hapmap]
rs7238408	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7241591	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7241602	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7241698	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7245067	0.83[CHB][hapmap];0.83[YRI][hapmap]
rs8086412	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088845	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8091139	0.84[AFR][1000 genomes]
rs976168	0.83[CHB][hapmap];0.81[LWK][hapmap]
rs9956011	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9962248	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9967265	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055995	chr18:8222469-8271135	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:8213400-8233000	Weak transcription	Fetal Thymus	thymus
4	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
5	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8220200-8231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:8225800-8234400	Weak transcription	Psoas Muscle	Psoas
8	chr18:8225800-8244000	Weak transcription	Aorta	Aorta
9	chr18:8227000-8232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:8227000-8233200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:8227000-8253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8227200-8255000	Weak transcription	A549	lung
13	chr18:8227400-8231000	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8227400-8254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:8229800-8230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:8229800-8230400	Enhancers	HMEC	breast
17	chr18:8229800-8230400	Enhancers	NHEK	skin
18	chr18:8230000-8230200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:8230000-8230400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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