Variant report

Variant	rs7182552
Chromosome Location	chr15:42303049-42303050
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	RCOR1	chr15:42302619-42303059	Hela-S3	cervix:	n/a	n/a
2	RUNX3	chr15:42302651-42303051	GM12878	blood:	n/a	n/a
3	STAT3	chr15:42302199-42303762	MCF10A-Er-Src	breast:	n/a	chr15:42302822-42302831 chr15:42302823-42302832 chr15:42302713-42302727 chr15:42303416-42303428 chr15:42302930-42302941
4	POLR2A	chr15:42302660-42303623	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr15:42302539-42303700	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL1	chr15:42302452-42303079	HCT-116	colon:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
7	FOS	chr15:42302528-42303088	MCF10A-Er-Src	breast:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
8	JUND	chr15:42302516-42303115	HCT-116	colon:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
9	MYC	chr15:42302689-42303631	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:42302411-42303705	MCF10A-Er-Src	breast:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
11	FOS	chr15:42302244-42303730	MCF10A-Er-Src	breast:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
12	FOSL1	chr15:42302562-42303148	HCT-116	colon:	n/a	chr15:42302846-42302854 chr15:42302844-42302856 chr15:42302846-42302853 chr15:42302845-42302855 chr15:42302932-42302944
13	NFIC	chr15:42302524-42303071	GM12878	blood:	n/a	n/a
14	RELA	chr15:42302642-42303521	GM19099	blood:	n/a	chr15:42303354-42303363 chr15:42303354-42303363 chr15:42302738-42302747 chr15:42302738-42302747
15	EBF1	chr15:42302674-42303110	GM12878	blood:	n/a	chr15:42302915-42302926 chr15:42302892-42302903 chr15:42302944-42302955 chr15:42302916-42302925
16	EBF1	chr15:42302553-42303465	GM12878	blood:	n/a	chr15:42302915-42302926 chr15:42302892-42302903 chr15:42302944-42302955 chr15:42302916-42302925
17	STAT3	chr15:42302262-42303755	MCF10A-Er-Src	breast:	n/a	chr15:42302822-42302831 chr15:42302823-42302832 chr15:42302713-42302727 chr15:42303416-42303428 chr15:42302930-42302941
18	CEBPB	chr15:42302565-42303058	Hela-S3	cervix:	n/a	n/a
19	EGR1	chr15:42302523-42303072	HCT-116	colon:	n/a	n/a
20	EBF1	chr15:42302661-42303117	GM12878	blood:	n/a	chr15:42302915-42302926 chr15:42302892-42302903 chr15:42302944-42302955 chr15:42302916-42302925
21	STAT3	chr15:42302208-42303727	MCF10A-Er-Src	breast:	n/a	chr15:42302822-42302831 chr15:42302823-42302832 chr15:42302713-42302727 chr15:42303416-42303428 chr15:42302930-42302941

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42303032-42303082	Hela-S3	cervix:	n/a
2	chr15:42303032-42303082	AG04450	lung:	fetal
3	chr15:42303032-42303082	PrEC	prostate:	n/a
4	chr15:42303032-42303082	MCF-7	breast:	n/a
5	chr15:42303032-42303082	GM12891	blood:	n/a
6	chr15:42303032-42303082	SAEC	small airway:	n/a
7	chr15:42303032-42303082	H1-hESC	embryonic stem cell:	embryo
8	chr15:42303032-42303082	NHDF-neo	bronchial:	n/a
9	chr15:42303032-42303082	HAEpiC	amniotic membrane:	n/a
10	chr15:42303032-42303082	RPTEC	kidney:	n/a
11	chr15:42303032-42303082	HRCEpiC	kidney:	n/a
12	chr15:42303032-42303082	Caco-2	colon:	n/a
13	chr15:42303032-42303082	HepG2	liver:	n/a
14	chr15:42303032-42303082	AG09309	skin:	n/a
15	chr15:42303032-42303082	AG10803	skin:	n/a
16	chr15:42303032-42303082	AG09319	gingival:	n/a
17	chr15:42303032-42303082	HRPEpiC	eye:	n/a
18	chr15:42303032-42303082	HCM	heart:	n/a
19	chr15:42303032-42303082	BJ	skin:	n/a
20	chr15:42303032-42303082	SK-N-SH_RA	brain:	n/a
21	chr15:42303032-42303082	PFSK-1	brain:	n/a
22	chr15:42303032-42303082	BE2_C	brain:	n/a
23	chr15:42303032-42303082	NH-A	brain:	n/a
24	chr15:42303032-42303082	NB4	blood:	n/a
25	chr15:42303032-42303082	GM19239	blood:	n/a
26	chr15:42303032-42303082	HCT-116	colon:	n/a
27	chr15:42303032-42303082	ovcar-3	ovarian:	n/a
28	chr15:42303032-42303082	U87	brain:	n/a
29	chr15:42303032-42303082	LNCaP	prostate:	n/a
30	chr15:42303032-42303082	GM12878	blood:	n/a
31	chr15:42303032-42303082	MCF10A-Er-Src	breast:	n/a
32	chr15:42303032-42303082	PANC-1	pancreas:	n/a
33	chr15:42303032-42303082	HIPEpiC	eye:	n/a
34	chr15:42303032-42303082	HL-60	blood:	n/a
35	chr15:42303032-42303082	Jurkat	blood:	n/a
36	chr15:42303032-42303082	NT2-D1	testis:	n/a
37	chr15:42303032-42303082	Hepatocyte	liver:	n/a
38	chr15:42303032-42303082	ECC-1	luminal epithelium:	n/a
39	chr15:42303032-42303082	AG04449	skin:	fetal
40	chr15:42303032-42303082	SK-N-SH	brain:	n/a
41	chr15:42303032-42303082	A549	lung:	n/a
42	chr15:42303032-42303082	HCPEpiC	choroid plexus:	n/a
43	chr15:42303032-42303082	HMEC	breast:	n/a
44	chr15:42303032-42303082	HEEpiC	esophagus:	n/a
45	chr15:42303032-42303082	GM06990	blood:	n/a
46	chr15:42303032-42303082	AoSMC	blood vessel:	n/a
47	chr15:42303032-42303082	HRE	kidney:	n/a
48	chr15:42303032-42303082	T-47D	breast:	n/a
49	chr15:42303032-42303082	SK-N-MC	brain:	n/a
50	chr15:42303032-42303082	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42297467..42299788-chr15:42301362..42303354,2	K562	blood:
2	chr15:42302667..42304179-chr15:42329977..42332936,2	MCF-7	breast:
3	chr15:42302877..42304522-chr15:42314324..42316672,2	MCF-7	breast:

Variant related genes	Relation type
PLA2G4E	TF binding region
PLA2G4E	CpG island
ENSG00000257797	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17689277	0.82[AMR][1000 genomes]
rs4924597	0.81[CEU][hapmap]
rs4924598	0.81[EUR][1000 genomes]
rs7163374	0.81[CEU][hapmap]
rs7182446	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726081	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42288200-42303400	Weak transcription	Pancreas	Pancrea
2	chr15:42290400-42310400	Weak transcription	Right Atrium	heart
3	chr15:42297800-42303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42300400-42303200	Weak transcription	Lung	lung
5	chr15:42301800-42306000	Enhancers	Fetal Intestine Small	intestine
6	chr15:42302000-42303200	Enhancers	Hela-S3	cervix
7	chr15:42302000-42304600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:42302000-42305400	Enhancers	Placenta	Placenta
9	chr15:42302000-42306000	Enhancers	Fetal Intestine Large	intestine
10	chr15:42302200-42304200	Weak transcription	Esophagus	oesophagus
11	chr15:42302200-42304200	Enhancers	HMEC	breast
12	chr15:42302200-42304600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:42302400-42303400	Enhancers	K562	blood
14	chr15:42302600-42304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:42302800-42303600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:42302800-42303600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr15:42302800-42303600	Flanking Active TSS	NHEK	skin
18	chr15:42303000-42303200	Flanking Active TSS	GM12878-XiMat	blood
19	chr15:42303000-42303400	Enhancers	Primary B cells from peripheral blood	blood

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