Variant report

Variant	rs74010952
Chromosome Location	chr15:42289981-42289982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:42289735-42290021	T-47D	breast:	n/a	n/a
2	FOXA2	chr15:42289806-42290018	HepG2	liver:	n/a	n/a
3	FOXA1	chr15:42289766-42290073	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42289939-42289989	CMK	blood:	n/a
2	chr15:42289939-42289989	ovcar-3	ovarian:	n/a
3	chr15:42289939-42289989	T-47D	breast:	n/a
4	chr15:42289939-42289989	PrEC	prostate:	n/a
5	chr15:42289939-42289989	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:42289939-42289989	H1-hESC	embryonic stem cell:	embryo
7	chr15:42289939-42289989	GM19239	blood:	n/a
8	chr15:42289939-42289989	AG09319	gingival:	n/a
9	chr15:42289939-42289989	HL-60	blood:	n/a
10	chr15:42289939-42289989	NHBE	bronchial:	n/a
11	chr15:42289939-42289989	AG10803	skin:	n/a
12	chr15:42289939-42289989	HEEpiC	esophagus:	n/a
13	chr15:42289939-42289989	HRCEpiC	kidney:	n/a
14	chr15:42289939-42289989	SAEC	small airway:	n/a
15	chr15:42289939-42289989	LNCaP	prostate:	n/a
16	chr15:42289939-42289989	NT2-D1	testis:	n/a
17	chr15:42289939-42289989	HNPCEpiC	eye:	n/a
18	chr15:42289939-42289989	AG04449	skin:	fetal
19	chr15:42289939-42289989	AG09309	skin:	n/a
20	chr15:42289939-42289989	HCF	heart:	n/a
21	chr15:42289939-42289989	NB4	blood:	n/a
22	chr15:42289939-42289989	RPTEC	kidney:	n/a
23	chr15:42289939-42289989	HUVEC	blood vessel:	n/a
24	chr15:42289939-42289989	IMR90	lung:	fetal
25	chr15:42289939-42289989	GM12892	blood:	n/a
26	chr15:42289939-42289989	SK-N-SH_RA	brain:	n/a
27	chr15:42289939-42289989	GM12891	blood:	n/a
28	chr15:42289939-42289989	NH-A	brain:	n/a
29	chr15:42289939-42289989	A549	lung:	n/a
30	chr15:42289939-42289989	GM06990	blood:	n/a
31	chr15:42289939-42289989	SK-N-SH	brain:	n/a
32	chr15:42289939-42289989	HCPEpiC	choroid plexus:	n/a
33	chr15:42289939-42289989	ProgFib	skin:	n/a
34	chr15:42289939-42289989	HIPEpiC	eye:	n/a
35	chr15:42289939-42289989	HRE	kidney:	n/a
36	chr15:42289939-42289989	MCF10A-Er-Src	breast:	n/a
37	chr15:42289939-42289989	HMEC	breast:	n/a
38	chr15:42289939-42289989	PANC-1	pancreas:	n/a
39	chr15:42289939-42289989	GM12878	blood:	n/a
40	chr15:42289939-42289989	PFSK-1	brain:	n/a
41	chr15:42289939-42289989	NHDF-neo	bronchial:	n/a
42	chr15:42289939-42289989	MCF-7	breast:	n/a
43	chr15:42289939-42289989	HEK293	kidney:	embryo
44	chr15:42289939-42289989	Caco-2	colon:	n/a
45	chr15:42289939-42289989	U87	brain:	n/a
46	chr15:42289939-42289989	HepG2	liver:	n/a
47	chr15:42289939-42289989	Hela-S3	cervix:	n/a
48	chr15:42289939-42289989	BE2_C	brain:	n/a
49	chr15:42289939-42289989	HRPEpiC	eye:	n/a
50	chr15:42289939-42289989	Jurkat	blood:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD7-PLA2G4B-4	chr15:42289337-42291292	ENSG00000246740

No data

Variant related genes	Relation type
PLA2G4E	TF binding region
PLA2G4E	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56912945	1.00[EUR][1000 genomes]
rs59516338	1.00[EUR][1000 genomes]
rs60534710	1.00[EUR][1000 genomes]
rs73405216	1.00[EUR][1000 genomes]
rs9806167	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42273000-42301800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42273800-42290000	Weak transcription	Right Atrium	heart
3	chr15:42273800-42301800	Weak transcription	Esophagus	oesophagus
4	chr15:42283200-42291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:42288200-42290000	Weak transcription	Right Ventricle	heart
6	chr15:42288200-42303400	Weak transcription	Pancreas	Pancrea
7	chr15:42289200-42290600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:42289400-42297400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:42289600-42290200	Enhancers	HepG2	liver
10	chr15:42289800-42290000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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