Variant report

Variant	rs16898095
Chromosome Location	chr8:124193523-124193524
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	JUN	chr8:124193193-124195893	K562	blood:	n/a	n/a
2	E2F4	chr8:124193394-124193586	MCF10A-Er-Src	breast:	n/a	n/a
3	CBX3	chr8:124193372-124195852	K562	blood:	n/a	n/a
4	MAX	chr8:124193356-124195458	Hela-S3	cervix:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
5	FOS	chr8:124193351-124193551	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:124193368-124193564	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:124193298-124193555	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr8:124193476-124193850	K562	blood:	n/a	n/a
9	MYC	chr8:124193494-124195267	K562	blood:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
10	CEBPB	chr8:124193294-124193549	Hela-S3	cervix:	n/a	n/a
11	MAX	chr8:124193422-124195800	MCF-7	breast:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124195640-124195650 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
12	GATA3	chr8:124193439-124195336	MCF-7	breast:	n/a	chr8:124194598-124194605 chr8:124194876-124194884 chr8:124194591-124194612 chr8:124194598-124194607 chr8:124193676-124193685 chr8:124194598-124194605 chr8:124194875-124194884 chr8:124194597-124194607 chr8:124194598-124194605 chr8:124194594-124194610 chr8:124194866-124194883
13	FOS	chr8:124193304-124193532	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF7L2	chr8:124193382-124195847	Hela-S3	cervix:	n/a	n/a
15	MAX	chr8:124193430-124195880	K562	blood:	n/a	chr8:124194240-124194249 chr8:124194199-124194212 chr8:124194202-124194211 chr8:124194200-124194210 chr8:124194199-124194212 chr8:124195640-124195650 chr8:124194239-124194250 chr8:124194201-124194211 chr8:124194199-124194212 chr8:124194201-124194210 chr8:124194236-124194251 chr8:124194199-124194212 chr8:124194201-124194208 chr8:124194200-124194211 chr8:124194200-124194209 chr8:124194239-124194249 chr8:124194197-124194212 chr8:124194200-124194211 chr8:124194241-124194248 chr8:124194199-124194214
16	GATA1	chr8:124193404-124196129	K562	blood:	n/a	chr8:124194598-124194605 chr8:124194591-124194612 chr8:124194598-124194607 chr8:124193676-124193685 chr8:124194598-124194605 chr8:124194875-124194884 chr8:124194597-124194607 chr8:124194598-124194605 chr8:124194594-124194610 chr8:124194866-124194883
17	TFAP2C	chr8:124193393-124195716	Hela-S3	cervix:	n/a	chr8:124193766-124193781 chr8:124194721-124194736
18	SIN3AK20	chr8:124193352-124195422	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:124193417-124195876	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:124193502-124195937	K562	blood:	n/a	n/a
21	NR2F2	chr8:124193438-124195670	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124192727..124195343-chr8:124286448..124288328,2	MCF-7	breast:
2	chr8:124190630..124193137-chr8:124193333..124194931,3	K562	blood:
3	chr8:124193270..124195385-chr8:124214799..124217849,3	MCF-7	breast:
4	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
5	chr8:124052976..124054549-chr8:124192727..124195649,2	K562	blood:

Variant related genes	Relation type
FAM83A	TF binding region
ENSG00000221461	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000204949	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000221461	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10096350	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10505430	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes]
rs11988157	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992152	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13259806	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13260626	0.93[EUR][1000 genomes]
rs13260775	0.93[EUR][1000 genomes]
rs13260798	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs13261021	0.93[EUR][1000 genomes]
rs13261066	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13261100	0.93[EUR][1000 genomes]
rs16898043	1.00[GIH][hapmap]
rs16898076	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16898084	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16898086	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes]
rs16898088	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes]
rs16898097	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1713733	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs17315999	1.00[GIH][hapmap]
rs17316158	1.00[GIH][hapmap]
rs17323510	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602001	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28513831	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28528232	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28537152	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28542077	0.96[EUR][1000 genomes]
rs28624331	0.96[EUR][1000 genomes]
rs28670850	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28694222	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4282551	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4377946	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57165742	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57322232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57902736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58116120	0.96[EUR][1000 genomes]
rs58177772	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58189203	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58741168	0.96[EUR][1000 genomes]
rs59601467	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59834873	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60362869	0.93[EUR][1000 genomes]
rs60827294	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61326230	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61422480	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62521826	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62521841	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983795	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6988636	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6989108	0.81[AMR][1000 genomes]
rs7002021	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7002332	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9987352	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9987357	1.00[CEU][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124186800-124194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:124186800-124194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:124187000-124193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:124189600-124193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124189800-124194800	Enhancers	HMEC	breast
7	chr8:124191800-124193600	Enhancers	Hela-S3	cervix
8	chr8:124192200-124193600	Enhancers	NHEK	skin
9	chr8:124192600-124193600	Enhancers	K562	blood
10	chr8:124193200-124193600	Weak transcription	Esophagus	oesophagus
11	chr8:124193200-124194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:124193200-124195800	Enhancers	Placenta	Placenta
13	chr8:124193400-124194800	Enhancers	Duodenum Mucosa	Duodenum
14	chr8:124193400-124195000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:124193400-124241200	Weak transcription	Right Atrium	heart

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