Variant report

Variant	rs73379342
Chromosome Location	chr15:34013212-34013213
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	POLR2A	chr15:34013046-34013743	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr15:34013058-34013417	MCF10A-Er-Src	breast:	n/a	chr15:34013094-34013102 chr15:34013243-34013254
3	JUND	chr15:34013043-34013500	SK-N-SH	brain:	n/a	chr15:34013094-34013102
4	FOS	chr15:34013068-34013425	MCF10A-Er-Src	breast:	n/a	chr15:34013094-34013102 chr15:34013243-34013254
5	FOS	chr15:34013058-34013441	MCF10A-Er-Src	breast:	n/a	chr15:34013094-34013102 chr15:34013243-34013254
6	E2F4	chr15:34013169-34013251	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:34013170-34013586	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr15:34013006-34013616	SK-N-SH	brain:	n/a	n/a
9	STAT3	chr15:34013190-34013321	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr15:34012878-34013637	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr15:34013158-34013563	HUVEC	blood vessel:	n/a	n/a
12	JUN	chr15:34013072-34013536	HUVEC	blood vessel:	n/a	chr15:34013094-34013102
13	FOSL2	chr15:34013007-34013532	SK-N-SH	brain:	n/a	chr15:34013094-34013102
14	PBX3	chr15:34012974-34013596	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr15:34013113-34013446	SK-N-SH	brain:	n/a	n/a
16	EP300	chr15:34013148-34013464	SK-N-SH_RA	brain:	n/a	n/a
17	FOSL2	chr15:34012965-34013583	SK-N-SH	brain:	n/a	chr15:34013094-34013102
18	FOS	chr15:34013058-34013443	MCF10A-Er-Src	breast:	n/a	chr15:34013094-34013102 chr15:34013243-34013254
19	TCF12	chr15:34012907-34013717	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr15:34012978-34013547	SK-N-SH	brain:	n/a	n/a
21	STAT3	chr15:34013147-34013414	MCF10A-Er-Src	breast:	n/a	n/a
22	JUND	chr15:34012990-34013574	SK-N-SH	brain:	n/a	chr15:34013094-34013102
23	GATA2	chr15:34013161-34013618	HUVEC	blood vessel:	n/a	n/a
24	JUND	chr15:34012926-34013578	SK-N-SH	brain:	n/a	chr15:34013094-34013102
25	FOS	chr15:34012994-34013693	HUVEC	blood vessel:	n/a	chr15:34013094-34013102 chr15:34013243-34013254
26	PBX3	chr15:34013020-34013572	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr15:34013153-34013682	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000200008	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11858976	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591509	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592052	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12594824	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16957657	0.85[AMR][1000 genomes]
rs16957666	0.85[AMR][1000 genomes]
rs16957745	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4779634	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4779635	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4779636	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4779637	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780158	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780159	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780160	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780161	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4780166	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61356371	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61564527	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6495218	0.85[AMR][1000 genomes]
rs6495219	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73377337	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73379326	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73379329	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73379330	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8026542	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8028058	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8029002	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8029607	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8033768	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8042177	0.97[EUR][1000 genomes];0.83[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	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv34037	chr15:33732616-34049083	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33993000-34034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:33993000-34034600	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:33993600-34016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:34002600-34015800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:34003000-34023600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:34003200-34014800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:34003200-34015600	Weak transcription	Brain Anterior Caudate	brain
8	chr15:34003400-34018400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:34004000-34015000	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:34004600-34017400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:34005800-34013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:34008400-34031000	Weak transcription	Aorta	Aorta
13	chr15:34008600-34019200	Weak transcription	Right Atrium	heart
14	chr15:34010200-34014600	Weak transcription	Esophagus	oesophagus
15	chr15:34012400-34014800	Enhancers	NHEK	skin
16	chr15:34012400-34016800	Enhancers	HUVEC	blood vessel
17	chr15:34012600-34014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:34012600-34015200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:34012600-34015400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:34012800-34013400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:34012800-34014800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:34012800-34015000	Enhancers	HMEC	breast
23	chr15:34013000-34015000	Enhancers	NH-A	brain
24	chr15:34013200-34013400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:34013200-34013600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:34013200-34015200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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