Variant report

Variant	rs17110818
Chromosome Location	chr14:81051353-81051354
allele	A/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	RFX5	chr14:81051311-81052038	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr14:81050820-81051629	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr14:81051162-81052124	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr14:81051236-81052072	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr14:81051308-81052128	MCF-7	breast:	n/a	n/a
6	FOS	chr14:81051263-81052087	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
7	EP300	chr14:81050650-81052173	SK-N-SH	brain:	n/a	chr14:81051755-81051764 chr14:81050963-81050977 chr14:81051740-81051750 chr14:81051009-81051019
8	GATA2	chr14:81050823-81051724	SH-SY5Y	brain:	n/a	n/a
9	FOS	chr14:81051292-81052088	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
10	KAP1	chr14:81051044-81051950	U2OS	brain:	n/a	n/a
11	TCF12	chr14:81051341-81052091	A549	lung:	n/a	chr14:81051395-81051405 chr14:81051536-81051546 chr14:81051767-81051774
12	FOS	chr14:81051278-81052096	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
13	GATA3	chr14:81050857-81051537	SK-N-SH	brain:	n/a	n/a
14	TCF7L2	chr14:81051326-81051917	Hela-S3	cervix:	n/a	chr14:81051755-81051764 chr14:81051749-81051756
15	KAP1	chr14:81050841-81051574	HEK293	kidney:	n/a	n/a
16	GATA1	chr14:81050851-81051721	PBDE	blood:	n/a	n/a
17	POLR2A	chr14:81051259-81051592	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr14:81050949-81051386	SK-N-SH_RA	brain:	n/a	chr14:81050963-81050977 chr14:81051009-81051019
19	STAT3	chr14:81051259-81052112	MCF10A-Er-Src	breast:	n/a	n/a
20	SMC3	chr14:81051249-81052104	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr14:81051335-81052078	Hela-S3	cervix:	n/a	n/a
22	EP300	chr14:81050977-81051396	SK-N-SH_RA	brain:	n/a	chr14:81051009-81051019
23	JUND	chr14:81051349-81052054	Hela-S3	cervix:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
24	GATA3	chr14:81050856-81052008	SH-SY5Y	brain:	n/a	n/a
25	TCF12	chr14:81051143-81052186	MCF-7	breast:	n/a	chr14:81051395-81051405 chr14:81051536-81051546 chr14:81051767-81051774
26	STAT3	chr14:81051344-81052088	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CEP128	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10144929	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs10145128	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs10498543	0.90[MEX][hapmap]
rs10498545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11621782	0.81[CHD][hapmap]
rs12586967	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589323	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17110770	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17110773	0.92[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17110806	0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17110817	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110831	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1868633	0.81[CHB][hapmap];0.87[CHD][hapmap];0.90[MEX][hapmap]
rs1972998	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs59152876	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981671	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61981672	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61981673	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61981687	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61981699	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61981702	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148681	0.90[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7149118	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7149425	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154706	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73328647	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013740	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015643	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8017795	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81046400-81053600	Weak transcription	Thymus	Thymus
2	chr14:81046600-81053600	Weak transcription	Dnd41	blood
3	chr14:81049600-81052800	Enhancers	Hela-S3	cervix
4	chr14:81050600-81051800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:81050600-81052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81050800-81051400	Enhancers	Fetal Intestine Large	intestine
7	chr14:81050800-81051800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:81050800-81051800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81050800-81051800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:81050800-81052800	Enhancers	HMEC	breast
11	chr14:81050800-81052800	Enhancers	NH-A	brain
12	chr14:81050800-81054600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:81051000-81051400	Enhancers	Osteobl	bone
14	chr14:81051000-81051800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:81051000-81051800	Enhancers	HUVEC	blood vessel
16	chr14:81051000-81052000	Enhancers	NHLF	lung
17	chr14:81051000-81052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:81051000-81052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:81051000-81052400	Enhancers	NHEK	skin
20	chr14:81051200-81051400	Enhancers	A549	lung
21	chr14:81051200-81051600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:81051200-81051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:81051200-81054200	Enhancers	Primary T cells from cord blood	blood

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