Variant report

Variant	rs1916117
Chromosome Location	chr8:104305694-104305695
allele	G/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	FOSL2	chr8:104305530-104306206	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr8:104305674-104306005	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr8:104305521-104306642	SK-N-SH	brain:	n/a	n/a
4	EP300	chr8:104305458-104306432	SK-N-SH	brain:	n/a	chr8:104306124-104306137
5	MAX	chr8:104305642-104306154	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr8:104305497-104306214	SK-N-SH	brain:	n/a	n/a
7	ZBTB33	chr8:104305634-104306227	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:104305583-104306595	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr8:104305509-104306471	SK-N-SH	brain:	n/a	n/a
10	JUND	chr8:104305521-104306332	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr8:104305562-104306627	SK-N-SH	brain:	n/a	chr8:104306128-104306137
12	PBX3	chr8:104305552-104306629	SK-N-SH	brain:	n/a	chr8:104306128-104306137
13	EP300	chr8:104305449-104306390	SK-N-SH	brain:	n/a	chr8:104306124-104306137
14	TEAD4	chr8:104305533-104306254	SK-N-SH	brain:	n/a	n/a
15	EP300	chr8:104305474-104306364	SK-N-SH	brain:	n/a	chr8:104306124-104306137
16	TCF12	chr8:104305492-104306724	SK-N-SH	brain:	n/a	n/a
17	RXRA	chr8:104305617-104306229	SK-N-SH	brain:	n/a	n/a
18	SIN3AK20	chr8:104305635-104306050	SK-N-SH	brain:	n/a	n/a
19	JUND	chr8:104305526-104306292	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr8:104305528-104306348	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr8:104305531-104306325	SK-N-SH	brain:	n/a	n/a
22	EP300	chr8:104305675-104306131	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104304283..104306547-chr8:104353505..104355629,2	MCF-7	breast:
2	chr8:104303715..104305851-chr8:104308014..104310361,2	K562	blood:
3	chr12:80085787..80088152-chr8:104304096..104306687,2	MCF-7	breast:

Variant related genes	Relation type
FZD6	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1004468	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10505042	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1053917	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1095713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1095714	0.96[ASN][1000 genomes]
rs11781252	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs11987172	0.83[ASN][1000 genomes]
rs12164188	0.88[ASN][1000 genomes]
rs12546491	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs12550097	0.91[ASN][1000 genomes]
rs1357354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370008	0.83[ASN][1000 genomes]
rs1370009	0.83[ASN][1000 genomes]
rs1464550	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1464552	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1522708	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1522710	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1522711	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1522712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16870346	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1851483	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2010308	0.85[ASN][1000 genomes]
rs2388532	0.86[ASN][1000 genomes]
rs2642363	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2642364	0.96[ASN][1000 genomes]
rs2642366	0.96[ASN][1000 genomes]
rs2642368	0.96[ASN][1000 genomes]
rs2687351	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28392906	0.94[ASN][1000 genomes]
rs2917550	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2934719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2948447	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133827	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs35019987	0.83[ASN][1000 genomes]
rs35935697	0.90[ASN][1000 genomes]
rs3736047	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3808553	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3808554	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3808556	0.91[ASN][1000 genomes]
rs3808559	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4734698	0.83[ASN][1000 genomes]
rs62525498	0.82[ASN][1000 genomes]
rs62525511	0.91[ASN][1000 genomes]
rs7008838	0.94[ASN][1000 genomes]
rs7012843	0.82[ASN][1000 genomes]
rs827530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs827534	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs827536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs827539	0.83[EUR][1000 genomes]
rs827547	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs827550	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827552	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs827578	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827579	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs827580	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827581	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827582	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs827583	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827584	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs827585	0.95[CHB][hapmap]
rs827586	0.83[EUR][1000 genomes]
rs827587	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs827588	0.88[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs844136	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs865461	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs865462	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104293800-104310000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:104301000-104306000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:104302600-104305800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:104302800-104306000	Weak transcription	NHDF-Ad	bronchial
7	chr8:104302800-104309000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:104303800-104306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:104305600-104306000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:104305600-104306200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:104305600-104306400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104305600-104306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:104305600-104306600	Enhancers	NHLF	lung
14	chr8:104305600-104306800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:104305600-104306800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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