Variant report

Variant	rs73328655
Chromosome Location	chr14:81051452-81051453
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	RFX5	chr14:81051311-81052038	Hela-S3	cervix:	n/a	n/a
2	EP300	chr14:81051442-81052077	Hela-S3	cervix:	n/a	chr14:81051755-81051764 chr14:81051740-81051750
3	GATA3	chr14:81050820-81051629	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr14:81051162-81052124	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr14:81051236-81052072	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr14:81051308-81052128	MCF-7	breast:	n/a	n/a
7	FOS	chr14:81051263-81052087	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
8	EP300	chr14:81050650-81052173	SK-N-SH	brain:	n/a	chr14:81051755-81051764 chr14:81050963-81050977 chr14:81051740-81051750 chr14:81051009-81051019
9	GATA2	chr14:81050823-81051724	SH-SY5Y	brain:	n/a	n/a
10	FOS	chr14:81051292-81052088	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
11	KAP1	chr14:81051044-81051950	U2OS	brain:	n/a	n/a
12	TCF12	chr14:81051341-81052091	A549	lung:	n/a	chr14:81051395-81051405 chr14:81051536-81051546 chr14:81051767-81051774
13	GATA3	chr14:81051372-81052042	MCF-7	breast:	n/a	n/a
14	FOS	chr14:81051370-81051951	HUVEC	blood vessel:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
15	FOS	chr14:81051278-81052096	MCF10A-Er-Src	breast:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
16	GATA3	chr14:81050857-81051537	SK-N-SH	brain:	n/a	n/a
17	TCF7L2	chr14:81051326-81051917	Hela-S3	cervix:	n/a	chr14:81051755-81051764 chr14:81051749-81051756
18	RCOR1	chr14:81051416-81052037	Hela-S3	cervix:	n/a	n/a
19	KAP1	chr14:81050841-81051574	HEK293	kidney:	n/a	n/a
20	GATA3	chr14:81051369-81052103	A549	lung:	n/a	n/a
21	GATA3	chr14:81051360-81052235	MCF-7	breast:	n/a	n/a
22	GATA1	chr14:81050851-81051721	PBDE	blood:	n/a	n/a
23	POLR2A	chr14:81051259-81051592	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL1	chr14:81051437-81051935	HCT-116	colon:	n/a	chr14:81051757-81051764 chr14:81051755-81051764
25	MYC	chr14:81051429-81051995	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr14:81051259-81052112	MCF10A-Er-Src	breast:	n/a	n/a
27	SMC3	chr14:81051249-81052104	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr14:81051335-81052078	Hela-S3	cervix:	n/a	n/a
29	JUND	chr14:81051349-81052054	Hela-S3	cervix:	n/a	chr14:81051757-81051764 chr14:81051755-81051764 chr14:81051754-81051765
30	GATA3	chr14:81050856-81052008	SH-SY5Y	brain:	n/a	n/a
31	FOSL2	chr14:81051359-81052078	A549	lung:	n/a	chr14:81051757-81051764 chr14:81051755-81051764
32	TCF12	chr14:81051143-81052186	MCF-7	breast:	n/a	chr14:81051395-81051405 chr14:81051536-81051546 chr14:81051767-81051774
33	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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10133617	1.00[EUR][1000 genomes]
rs10136245	1.00[EUR][1000 genomes]
rs10137925	1.00[EUR][1000 genomes]
rs10140445	1.00[EUR][1000 genomes]
rs10144134	1.00[EUR][1000 genomes]
rs10151108	1.00[EUR][1000 genomes]
rs10220319	1.00[EUR][1000 genomes]
rs1375628	1.00[EUR][1000 genomes]
rs17110847	1.00[EUR][1000 genomes]
rs17111025	1.00[EUR][1000 genomes]
rs2197983	1.00[EUR][1000 genomes]
rs28529404	1.00[EUR][1000 genomes]
rs327437	1.00[EUR][1000 genomes]
rs56933416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57834417	1.00[EUR][1000 genomes]
rs58268321	1.00[EUR][1000 genomes]
rs58595334	1.00[EUR][1000 genomes]
rs60207137	1.00[EUR][1000 genomes]
rs61435414	1.00[EUR][1000 genomes]
rs73326644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73328649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73328682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73330508	1.00[EUR][1000 genomes]
rs73330519	1.00[AMR][1000 genomes]
rs73330520	1.00[AMR][1000 genomes]
rs73330543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73334792	1.00[EUR][1000 genomes]
rs73336577	1.00[EUR][1000 genomes]
rs73336590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73336591	1.00[EUR][1000 genomes]
rs73336597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338970	1.00[EUR][1000 genomes]
rs73338973	1.00[EUR][1000 genomes]
rs73340517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73342552	1.00[EUR][1000 genomes]
rs73342554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74064297	1.00[EUR][1000 genomes]
rs8020092	1.00[EUR][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:27 , 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	chr14:81050800-81051800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:81050800-81051800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81050800-81051800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr14:81050800-81052800	Enhancers	HMEC	breast
10	chr14:81050800-81052800	Enhancers	NH-A	brain
11	chr14:81050800-81054600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:81051000-81051800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:81051000-81051800	Enhancers	HUVEC	blood vessel
14	chr14:81051000-81052000	Enhancers	NHLF	lung
15	chr14:81051000-81052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:81051000-81052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:81051000-81052400	Enhancers	NHEK	skin
18	chr14:81051200-81051600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81051200-81051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:81051200-81054200	Enhancers	Primary T cells from cord blood	blood
21	chr14:81051400-81052000	Enhancers	Fetal Intestine Small	intestine
22	chr14:81051400-81052000	Enhancers	Fetal Lung	lung
23	chr14:81051400-81052000	Enhancers	Stomach Mucosa	stomach
24	chr14:81051400-81052000	Flanking Active TSS	A549	lung
25	chr14:81051400-81052000	Enhancers	HSMMtube	muscle
26	chr14:81051400-81052400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:81051400-81053600	Weak transcription	Osteobl	bone

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