Variant report

Variant	rs28542077
Chromosome Location	chr8:124190896-124190897
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	TEAD4	chr8:124190727-124191694	K562	blood:	n/a	n/a
2	NR2F2	chr8:124190819-124191876	K562	blood:	n/a	n/a
3	SPI1	chr8:124190874-124191495	K562	blood:	n/a	n/a
4	FOSL1	chr8:124190854-124191636	HCT-116	colon:	n/a	n/a
5	JUND	chr8:124190887-124191458	K562	blood:	n/a	n/a
6	ELF1	chr8:124190848-124191582	MCF-7	breast:	n/a	chr8:124191153-124191164 chr8:124191152-124191165
7	ARID3A	chr8:124190810-124191654	K562	blood:	n/a	n/a
8	STAT5A	chr8:124190880-124191717	K562	blood:	n/a	chr8:124190980-124190992 chr8:124191153-124191160
9	TRIM28	chr8:124190883-124191847	K562	blood:	n/a	n/a
10	ELF1	chr8:124190816-124191535	K562	blood:	n/a	chr8:124191153-124191164 chr8:124191152-124191165
11	ELF1	chr8:124190763-124191570	HCT-116	colon:	n/a	chr8:124191153-124191164 chr8:124191152-124191165
12	SPI1	chr8:124190884-124191666	HL-60	blood:	n/a	n/a
13	ZC3H11A	chr8:124190800-124191257	K562	blood:	n/a	n/a
14	CBX3	chr8:124190853-124192085	HCT-116	colon:	n/a	n/a
15	RCOR1	chr8:124190859-124191467	K562	blood:	n/a	n/a
16	ATF1	chr8:124190872-124191459	K562	blood:	n/a	n/a
17	ELF1	chr8:124190893-124191362	K562	blood:	n/a	chr8:124191153-124191164 chr8:124191152-124191165
18	SP1	chr8:124190802-124191971	HCT-116	colon:	n/a	n/a
19	PML	chr8:124190838-124191524	K562	blood:	n/a	n/a
20	SPI1	chr8:124190670-124191800	GM12878	blood:	n/a	n/a
21	GATA2	chr8:124190888-124191465	K562	blood:	n/a	n/a
22	IRF1	chr8:124190882-124191864	K562	blood:	n/a	chr8:124191057-124191066
23	JUND	chr8:124190842-124191672	HCT-116	colon:	n/a	n/a
24	CBX3	chr8:124190636-124192035	K562	blood:	n/a	n/a
25	TEAD4	chr8:124190853-124191508	K562	blood:	n/a	n/a
26	CBX3	chr8:124190849-124191921	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:
2	chr8:124190630..124193137-chr8:124193333..124194931,3	K562	blood:
3	chr8:124190429..124191957-chr8:124195125..124197218,2	K562	blood:
4	chr8:124054165..124056037-chr8:124190131..124191993,2	K562	blood:

Variant related genes	Relation type
FAM83A	TF binding region
ENSG00000156787	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10096350	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10505430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988157	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11992152	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13259806	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13260626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13260775	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13260798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13261021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13261066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13261100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898076	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898086	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898095	0.96[EUR][1000 genomes]
rs16898097	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1713733	0.85[EUR][1000 genomes]
rs17323510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602001	0.88[EUR][1000 genomes]
rs28513831	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28528232	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28537152	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28624331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28670850	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28694222	0.96[EUR][1000 genomes]
rs4282551	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4377946	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57165742	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57322232	0.96[EUR][1000 genomes]
rs57902736	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58116120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58177772	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58189203	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58741168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59601467	0.96[EUR][1000 genomes]
rs59834873	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60362869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60827294	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61326230	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61422480	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521825	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62521826	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62521841	0.96[EUR][1000 genomes]
rs6983795	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6988636	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989108	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7002021	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7002332	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73339686	0.83[EUR][1000 genomes]
rs9987352	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9987357	0.91[AMR][1000 genomes];0.91[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	chr8:124189000-124192800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:124189600-124193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124189800-124194800	Enhancers	HMEC	breast
8	chr8:124190000-124191400	Enhancers	NHEK	skin
9	chr8:124190000-124192400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124190600-124191000	Enhancers	Esophagus	oesophagus
11	chr8:124190600-124191200	Enhancers	GM12878-XiMat	blood
12	chr8:124190600-124192200	Flanking Active TSS	K562	blood
13	chr8:124190800-124191000	Enhancers	Hela-S3	cervix
14	chr8:124190800-124191200	Bivalent Enhancer	HUVEC	blood vessel
15	chr8:124190800-124191400	Enhancers	NH-A	brain

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