Variant report

Variant	rs73034634
Chromosome Location	chr1:166138547-166138548
allele	G/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	RUNX3	chr1:166138377-166138869	GM12878	blood:	n/a	n/a
2	FOXM1	chr1:166138351-166138882	GM12878	blood:	n/a	n/a
3	EBF1	chr1:166138491-166138775	GM12878	blood:	n/a	n/a
4	RUNX3	chr1:166138317-166138954	GM12878	blood:	n/a	n/a
5	EP300	chr1:166138377-166139761	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr1:166138460-166139687	GM12878	blood:	n/a	n/a
7	POU2F2	chr1:166138299-166138689	GM12891	blood:	n/a	chr1:166138481-166138490 chr1:166138480-166138490 chr1:166138475-166138497 chr1:166138478-166138491 chr1:166138478-166138493 chr1:166138482-166138489
8	CHD1	chr1:166138302-166138631	GM12878	blood:	n/a	n/a
9	RELA	chr1:166138487-166139993	GM12878	blood:	n/a	n/a
10	SP1	chr1:166138428-166138818	GM12878	blood:	n/a	chr1:166138610-166138619 chr1:166138792-166138801
11	ATF2	chr1:166138313-166138842	GM12878	blood:	n/a	n/a
12	NFATC1	chr1:166138368-166138852	GM12878	blood:	n/a	n/a
13	STAT1	chr1:166138495-166138757	GM12878	blood:	n/a	chr1:166138610-166138622
14	EP300	chr1:166138442-166139772	GM12878	blood:	n/a	n/a
15	WRNIP1	chr1:166138386-166138806	GM12878	blood:	n/a	n/a
16	BATF	chr1:166138413-166138812	GM12878	blood:	n/a	n/a
17	CHD2	chr1:166138426-166138778	GM12878	blood:	n/a	n/a
18	CUX1	chr1:166138535-166139009	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:166138508-166138813	GM12878	blood:	n/a	n/a
20	ATF2	chr1:166138336-166138861	GM12878	blood:	n/a	n/a
21	SP1	chr1:166138408-166138827	GM12878	blood:	n/a	chr1:166138610-166138619 chr1:166138792-166138801
22	STAT3	chr1:166138480-166138781	GM12878	blood:	n/a	chr1:166138610-166138622
23	BCL11A	chr1:166138462-166138742	GM12878	blood:	n/a	n/a
24	RCOR1	chr1:166138291-166138702	GM12878	blood:	n/a	n/a
25	IKZF1	chr1:166138453-166138822	GM12878	blood:	n/a	chr1:166138812-166138820
26	NFIC	chr1:166138308-166139787	GM12878	blood:	n/a	n/a
27	POU2F2	chr1:166138279-166138794	GM12878	blood:	n/a	chr1:166138481-166138490 chr1:166138480-166138490 chr1:166138475-166138497 chr1:166138478-166138491 chr1:166138478-166138493 chr1:166138482-166138489
28	PML	chr1:166138327-166138927	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10800195	1.00[ASN][1000 genomes]
rs10800196	1.00[ASN][1000 genomes]
rs10918380	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401942	0.93[ASN][1000 genomes]
rs12404396	0.94[ASN][1000 genomes]
rs12406386	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406413	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407378	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410779	1.00[ASN][1000 genomes]
rs1376660	0.95[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	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856639	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856659	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856712	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1993106	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2116525	0.82[ASN][1000 genomes]
rs2163629	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	0.96[ASN][1000 genomes]
rs6663116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672329	1.00[ASN][1000 genomes]
rs6676350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034629	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034636	0.95[AFR][1000 genomes]
rs73041277	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046941	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73046946	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73046954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046970	0.95[AFR][1000 genomes]
rs74118982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118983	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74118984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523055	0.98[ASN][1000 genomes]
rs7551664	1.00[ASN][1000 genomes]
rs970519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973381	1.00[ASN][1000 genomes]
rs987131	0.91[AFR][1000 genomes];1.00[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:22 , 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	chr1:166137200-166139200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:166137200-166139200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:166137200-166139400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:166137200-166140000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:166137200-166140000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:166137200-166140000	Weak transcription	HMEC	breast
14	chr1:166137200-166140400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:166137400-166139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:166137400-166139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:166137400-166140000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:166137400-166141000	Weak transcription	Pancreas	Pancrea
19	chr1:166137400-166141000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:166137600-166141800	Enhancers	GM12878-XiMat	blood
21	chr1:166138200-166140200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:166138400-166140000	Enhancers	HUES48 Cell Line	embryonic stem cell

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