Variant report

Variant	rs10918380
Chromosome Location	chr1:166139736-166139737
allele	A/G
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	PAX5	chr1:166139215-166139768	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:166139183-166139763	GM12878	blood:	n/a	n/a
3	EP300	chr1:166138377-166139761	GM12878	blood:	n/a	n/a
4	MTA3	chr1:166139087-166139835	GM12878	blood:	n/a	n/a
5	EBF1	chr1:166139090-166140106	GM12878	blood:	n/a	n/a
6	POU2F2	chr1:166139121-166139745	GM12891	blood:	n/a	chr1:166139415-166139436 chr1:166139420-166139434 chr1:166139422-166139435 chr1:166139422-166139435 chr1:166139422-166139435 chr1:166139423-166139437
7	POU2F2	chr1:166139129-166139749	GM12878	blood:	n/a	chr1:166139415-166139436 chr1:166139420-166139434 chr1:166139422-166139435 chr1:166139422-166139435 chr1:166139422-166139435 chr1:166139423-166139437
8	MAX	chr1:166139257-166139763	GM12878	blood:	n/a	n/a
9	RELA	chr1:166138487-166139993	GM12878	blood:	n/a	n/a
10	MTA3	chr1:166139121-166139766	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:166139132-166139752	GM12878	blood:	n/a	n/a
12	EBF1	chr1:166139126-166139795	GM12878	blood:	n/a	n/a
13	STAT1	chr1:166139258-166139815	GM12878	blood:	n/a	n/a
14	RELA	chr1:166139170-166139799	GM19099	blood:	n/a	n/a
15	RELA	chr1:166139175-166139760	GM12891	blood:	n/a	n/a
16	EP300	chr1:166138442-166139772	GM12878	blood:	n/a	n/a
17	PML	chr1:166139110-166139757	GM12878	blood:	n/a	n/a
18	FOXM1	chr1:166139116-166139739	GM12878	blood:	n/a	n/a
19	MAZ	chr1:166139195-166139971	GM12878	blood:	n/a	n/a
20	SP1	chr1:166139115-166139749	GM12878	blood:	n/a	n/a
21	NFIC	chr1:166138308-166139787	GM12878	blood:	n/a	n/a
22	RELA	chr1:166139145-166139757	GM18951	blood:	n/a	n/a
23	STAT3	chr1:166139219-166140133	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166127346..166129390-chr1:166139728..166141681,2	K562	blood:
2	chr1:166139617..166141125-chr1:166142092..166144780,2	K562	blood:

Variant related genes	Relation type
FAM78B	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10800195	1.00[ASN][1000 genomes]
rs10800196	1.00[ASN][1000 genomes]
rs12401942	0.93[ASN][1000 genomes]
rs12404396	0.94[ASN][1000 genomes]
rs12406386	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407378	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410486	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410779	1.00[ASN][1000 genomes]
rs1376660	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451605	0.82[ASN][1000 genomes]
rs1551178	0.82[ASN][1000 genomes]
rs16856624	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856639	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856659	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856712	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1993106	1.00[ASN][1000 genomes]
rs2116525	0.82[ASN][1000 genomes]
rs2163629	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4072243	1.00[ASN][1000 genomes]
rs4072267	0.87[ASN][1000 genomes]
rs4657519	1.00[ASN][1000 genomes]
rs4657521	1.00[ASN][1000 genomes]
rs4657524	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6663116	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663205	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672329	1.00[ASN][1000 genomes]
rs6676350	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034629	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034634	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041277	1.00[ASN][1000 genomes]
rs73046941	1.00[ASN][1000 genomes]
rs73046946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046949	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118982	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118983	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118984	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523055	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7551664	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs970519	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973381	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs987131	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 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	chr1:166136800-166145200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:166137000-166139800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:166137000-166140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:166137000-166142600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:166137000-166142800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:166137000-166143600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:166137000-166144000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:166137200-166140000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:166137200-166140000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:166137200-166140000	Weak transcription	HMEC	breast
11	chr1:166137200-166140400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:166137400-166139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:166137400-166140000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:166137400-166141000	Weak transcription	Pancreas	Pancrea
15	chr1:166137400-166141000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:166137600-166141800	Enhancers	GM12878-XiMat	blood
17	chr1:166138200-166140200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:166138400-166140000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:166138600-166139800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:166139000-166140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:166139200-166140400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:166139200-166141200	Enhancers	Brain Hippocampus Middle	brain
23	chr1:166139400-166140600	Enhancers	Brain Substantia Nigra	brain
24	chr1:166139600-166142400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:166139600-166142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:166139600-166142600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:166139600-166142800	Weak transcription	H1 Cell Line	embryonic stem cell

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