Variant report

Variant	rs59390147
Chromosome Location	chr19:52255673-52255674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52255673-52255723	H1-hESC	embryonic stem cell:	embryo
2	chr19:52255673-52255723	T-47D	breast:	n/a
3	chr19:52255673-52255723	HCT-116	colon:	n/a
4	chr19:52255673-52255723	HCM	heart:	n/a
5	chr19:52255673-52255723	GM12891	blood:	n/a
6	chr19:52255673-52255723	PrEC	prostate:	n/a
7	chr19:52255673-52255723	MCF-7	breast:	n/a
8	chr19:52255673-52255723	AG09309	skin:	n/a
9	chr19:52255673-52255723	NHBE	bronchial:	n/a
10	chr19:52255673-52255723	ProgFib	skin:	n/a
11	chr19:52255673-52255723	AG10803	skin:	n/a
12	chr19:52255673-52255723	HepG2	liver:	n/a
13	chr19:52255673-52255723	SKMC	muscle:	n/a
14	chr19:52255673-52255723	RPTEC	kidney:	n/a
15	chr19:52255673-52255723	AG09319	gingival:	n/a
16	chr19:52255673-52255723	HCF	heart:	n/a
17	chr19:52255673-52255723	HIPEpiC	eye:	n/a
18	chr19:52255673-52255723	Hepatocyte	liver:	n/a
19	chr19:52255673-52255723	IMR90	lung:	fetal
20	chr19:52255673-52255723	GM19239	blood:	n/a
21	chr19:52255673-52255723	SK-N-MC	brain:	n/a
22	chr19:52255673-52255723	GM12878	blood:	n/a
23	chr19:52255673-52255723	A549	lung:	n/a
24	chr19:52255673-52255723	HMEC	breast:	n/a
25	chr19:52255673-52255723	ovcar-3	ovarian:	n/a
26	chr19:52255673-52255723	ECC-1	luminal epithelium:	n/a
27	chr19:52255673-52255723	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:52255673-52255723	HEEpiC	esophagus:	n/a
29	chr19:52255673-52255723	BE2_C	brain:	n/a
30	chr19:52255673-52255723	HAEpiC	amniotic membrane:	n/a
31	chr19:52255673-52255723	HL-60	blood:	n/a
32	chr19:52255673-52255723	GM12892	blood:	n/a
33	chr19:52255673-52255723	Caco-2	colon:	n/a
34	chr19:52255673-52255723	SAEC	small airway:	n/a
35	chr19:52255673-52255723	Hela-S3	cervix:	n/a
36	chr19:52255673-52255723	SK-N-SH_RA	brain:	n/a
37	chr19:52255673-52255723	HRPEpiC	eye:	n/a
38	chr19:52255673-52255723	NHDF-neo	bronchial:	n/a
39	chr19:52255673-52255723	K562	blood:	n/a
40	chr19:52255673-52255723	SK-N-SH	brain:	n/a
41	chr19:52255673-52255723	HEK293	kidney:	embryo
42	chr19:52255673-52255723	PANC-1	pancreas:	n/a
43	chr19:52255673-52255723	HCPEpiC	choroid plexus:	n/a
44	chr19:52255673-52255723	U87	brain:	n/a
45	chr19:52255673-52255723	Jurkat	blood:	n/a
46	chr19:52255673-52255723	CMK	blood:	n/a
47	chr19:52255673-52255723	AoSMC	blood vessel:	n/a
48	chr19:52255673-52255723	BJ	skin:	n/a
49	chr19:52255673-52255723	GM06990	blood:	n/a
50	chr19:52255673-52255723	NH-A	brain:	n/a

No data

Variant related genes	Relation type
FPR1	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12459518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167419	0.81[ASN][1000 genomes]
rs59278521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52251000-52257400	Active TSS	Primary hematopoietic stem cells	blood
2	chr19:52252600-52255800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:52252800-52255800	Active TSS	Brain Hippocampus Middle	brain
4	chr19:52252800-52256400	Active TSS	Primary B cells from cord blood	blood
5	chr19:52253200-52255800	Enhancers	HSMM	muscle
6	chr19:52254200-52255800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:52254600-52256400	Weak transcription	Placenta	Placenta
8	chr19:52255000-52258200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:52255200-52255800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr19:52255200-52255800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:52255200-52255800	Enhancers	Fetal Muscle Leg	muscle
12	chr19:52255200-52259600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr19:52255400-52255800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:52255400-52255800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr19:52255600-52255800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:52255600-52257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:52255600-52258600	Weak transcription	K562	blood

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