Variant report

Variant	rs4802859
Chromosome Location	chr19:52255196-52255197
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	POLR2A	chr19:52254917-52255326	MCF10A-Er-Src	breast:	n/a	n/a
2	IRF1	chr19:52255058-52255258	K562	blood:	n/a	n/a
3	POLR2A	chr19:52254929-52255358	U87	brain:	n/a	n/a
4	STAT3	chr19:52255107-52255307	MCF10A-Er-Src	breast:	n/a	chr19:52255220-52255227
5	JUND	chr19:52254992-52255272	K562	blood:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
6	FOS	chr19:52255016-52255263	MCF10A-Er-Src	breast:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
7	MYC	chr19:52255021-52255269	NB4	blood:	n/a	n/a
8	POLR2A	chr19:52254732-52255620	U87	brain:	n/a	n/a
9	SPI1	chr19:52254931-52255484	HL-60	blood:	n/a	n/a
10	POLR2A	chr19:52254750-52255620	U87	brain:	n/a	n/a
11	FOS	chr19:52254957-52255263	MCF10A-Er-Src	breast:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
12	SPI1	chr19:52255145-52255249	K562	blood:	n/a	n/a
13	JUND	chr19:52254826-52255403	HCT-116	colon:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
14	POLR2A	chr19:52254948-52255287	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr19:52254791-52255403	HCT-116	colon:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
16	POLR2A	chr19:52254867-52255339	U87	brain:	n/a	n/a
17	FOS	chr19:52254912-52255274	MCF10A-Er-Src	breast:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142
18	MAX	chr19:52255051-52255301	NB4	blood:	n/a	n/a
19	FOSL1	chr19:52254779-52255369	HCT-116	colon:	n/a	chr19:52255129-52255139 chr19:52255130-52255138 chr19:52255131-52255142

Variant related genes	Relation type
FPR1	TF binding region
FPR2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10410115	1.00[JPT][hapmap]
rs10423494	1.00[JPT][hapmap]
rs10424234	1.00[JPT][hapmap]
rs10853843	1.00[JPT][hapmap]
rs11084120	1.00[JPT][hapmap]
rs11084121	1.00[JPT][hapmap]
rs11882804	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167419	0.84[EUR][1000 genomes]
rs2191225	1.00[JPT][hapmap]
rs3764542	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4801892	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4801894	1.00[JPT][hapmap]
rs4802857	0.81[EUR][1000 genomes]
rs4802860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802862	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030878	0.83[ASN][1000 genomes]
rs6509570	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253284	0.84[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258819	1.00[JPT][hapmap]
rs8111423	1.00[JPT][hapmap]
rs961553	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
5	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
6	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
8	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
9	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
11	nsv1059148	chr19:52211749-52359815	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1057279	chr19:52225513-52350896	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv524403	chr19:52225767-52356791	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv470151	chr19:52225767-52359169	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv458733	chr19:52225767-52359983	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv579997	chr19:52225767-52359983	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv1067301	chr19:52227027-52350054	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065078	chr19:52227916-52350896	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv34938	chr19:52227916-52630935	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
20	nsv1063136	chr19:52231449-52350896	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	nsv1065599	chr19:52231504-52359815	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv1061029	chr19:52249900-52614747	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr19:52251000-52255200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:52251000-52257400	Active TSS	Primary hematopoietic stem cells	blood
3	chr19:52252000-52255200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:52252600-52255800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:52252800-52255800	Active TSS	Brain Hippocampus Middle	brain
6	chr19:52252800-52256400	Active TSS	Primary B cells from cord blood	blood
7	chr19:52253200-52255200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:52253200-52255600	Enhancers	Osteobl	bone
9	chr19:52253200-52255800	Enhancers	HSMM	muscle
10	chr19:52253800-52255600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr19:52254200-52255400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:52254200-52255800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:52254400-52255600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:52254600-52255200	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:52254600-52256400	Weak transcription	Placenta	Placenta
16	chr19:52254800-52255200	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr19:52255000-52255600	Enhancers	HMEC	breast
18	chr19:52255000-52255600	Enhancers	K562	blood
19	chr19:52255000-52255600	Enhancers	NHEK	skin
20	chr19:52255000-52258200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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