Variant report

Variant	rs73605177
Chromosome Location	chr19:55841297-55841298
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	FOSL1	chr19:55841104-55841478	HCT-116	colon:	n/a	n/a
2	FOS	chr19:55841267-55841552	MCF10A-Er-Src	breast:	n/a	chr19:55841358-55841369
3	JUND	chr19:55841158-55841468	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr19:55841113-55841528	SK-N-SH	brain:	n/a	chr19:55841369-55841378 chr19:55841320-55841331
5	FOSL2	chr19:55841140-55841510	SK-N-SH	brain:	n/a	n/a
6	FOS	chr19:55841182-55841531	MCF10A-Er-Src	breast:	n/a	chr19:55841358-55841369
7	STAT3	chr19:55841255-55841455	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr19:55841235-55841453	HUVEC	blood vessel:	n/a	chr19:55841358-55841369
9	FOS	chr19:55841192-55841555	MCF10A-Er-Src	breast:	n/a	chr19:55841358-55841369
10	RFX5	chr19:55841181-55841381	Hela-S3	cervix:	n/a	n/a
11	ZNF384	chr19:55841190-55841477	K562	blood:	n/a	n/a
12	FOS	chr19:55841278-55841530	MCF10A-Er-Src	breast:	n/a	chr19:55841358-55841369
13	MYC	chr19:55841229-55841429	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr19:55838786-55841576	SK-N-SH	brain:	n/a	chr19:55840463-55840478 chr19:55839776-55839791

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55840395..55842004-chr19:55843944..55845641,2	MCF-7	breast:
2	chr19:55837505..55841740-chr19:55848603..55850445,4	MCF-7	breast:

Variant related genes	Relation type
TMEM150B	TF binding region
ENSG00000180061	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10426959	1.00[EUR][1000 genomes]
rs57232155	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7249465	1.00[EUR][1000 genomes]
rs73605189	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73605193	1.00[EUR][1000 genomes]
rs73935333	1.00[EUR][1000 genomes]
rs8101351	1.00[EUR][1000 genomes]
rs8104117	1.00[EUR][1000 genomes]
rs8113269	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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
8	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55813600-55850000	Weak transcription	Right Atrium	heart
2	chr19:55836800-55848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:55838200-55843200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:55839200-55842400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:55839200-55843200	Weak transcription	Adipose Nuclei	Adipose
6	chr19:55839200-55850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:55839400-55845200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr19:55839800-55844200	Weak transcription	Fetal Intestine Large	intestine
9	chr19:55839800-55845200	Weak transcription	Hela-S3	cervix
10	chr19:55840000-55844000	Weak transcription	HepG2	liver
11	chr19:55841000-55841400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:55841000-55841400	Enhancers	NHEK	skin
13	chr19:55841000-55843200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:55841200-55841400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:55841200-55841400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:55841200-55841400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:55841200-55841400	Enhancers	Osteobl	bone
18	chr19:55841200-55841800	Enhancers	Stomach Mucosa	stomach
19	chr19:55841200-55841800	Enhancers	A549	lung
20	chr19:55841200-55844400	Enhancers	Primary monocytes fromperipheralblood	blood

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