Variant report

Variant	rs73151663
Chromosome Location	chr7:66440442-66440443
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	USF1	chr7:66440154-66440511	H1-hESC	embryonic stem cell:	n/a	chr7:66440358-66440369
2	USF1	chr7:66440146-66440477	K562	blood:	n/a	chr7:66440358-66440369
3	JUND	chr7:66440178-66440517	K562	blood:	n/a	chr7:66440330-66440341
4	CHD2	chr7:66440246-66440498	K562	blood:	n/a	n/a
5	ATF3	chr7:66440226-66440478	K562	blood:	n/a	n/a
6	USF1	chr7:66440226-66440536	SK-N-SH	brain:	n/a	chr7:66440358-66440369
7	FOS	chr7:66440240-66440549	K562	blood:	n/a	n/a
8	USF1	chr7:66440188-66440485	A549	lung:	n/a	chr7:66440358-66440369
9	USF1	chr7:66440204-66440515	K562	blood:	n/a	chr7:66440358-66440369
10	USF1	chr7:66440185-66440543	ECC-1	luminal epithelium:	n/a	chr7:66440358-66440369
11	USF1	chr7:66440181-66440576	ECC-1	luminal epithelium:	n/a	chr7:66440358-66440369
12	NFYB	chr7:66440213-66440600	K562	blood:	n/a	chr7:66440343-66440358
13	USF1	chr7:66440169-66440560	A549	lung:	n/a	chr7:66440358-66440369
14	EP300	chr7:66440197-66440489	GM12878	blood:	n/a	n/a
15	CEBPB	chr7:66440372-66440611	K562	blood:	n/a	n/a
16	NFYA	chr7:66440240-66440593	K562	blood:	n/a	chr7:66440417-66440435
17	USF1	chr7:66440253-66440473	A549	lung:	n/a	chr7:66440358-66440369
18	USF2	chr7:66440246-66440518	K562	blood:	n/a	n/a
19	USF2	chr7:66440210-66440532	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr7:66440114-66440489	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP1	chr7:66440197-66440548	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr7:66440134-66440682	K562	blood:	n/a	n/a
23	USF1	chr7:66440200-66440493	A549	lung:	n/a	chr7:66440358-66440369
24	CHD2	chr7:66440195-66440484	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF1	chr7:66440264-66440557	SK-N-SH_RA	brain:	n/a	chr7:66440358-66440369
26	USF1	chr7:66440180-66440591	H1-hESC	embryonic stem cell:	n/a	chr7:66440358-66440369
27	IRF1	chr7:66440206-66440596	K562	blood:	n/a	n/a
28	TBP	chr7:66440149-66440507	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFYB	chr7:66440271-66440542	Hela-S3	cervix:	n/a	chr7:66440343-66440358
30	USF2	chr7:66440282-66440511	Hela-S3	cervix:	n/a	n/a
31	EP300	chr7:66440178-66440664	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66430596..66433000-chr7:66437729..66440706,2	K562	blood:
2	chr7:66439219..66440739-chr8:101726060..101728497,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL43P	TF binding region
ENSG00000070756	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10228964	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10264433	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10264555	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266792	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10280816	0.85[AMR][1000 genomes]
rs13437994	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17680708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17748115	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17748222	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472679	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28501161	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28641990	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28675035	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28817095	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3800818	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59693594	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6965680	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6971508	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71526586	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73145924	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73151646	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73151665	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785883	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7809359	0.81[ASN][1000 genomes]
rs7809535	0.81[ASN][1000 genomes]
rs868960	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv966836	chr7:66438146-66457576	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73151663	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
5	chr7:66438800-66444800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:66439000-66445000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:66439600-66441200	Enhancers	K562	blood
8	chr7:66440200-66440600	Enhancers	Dnd41	blood
9	chr7:66440400-66442800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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