Variant report

Variant	rs59823881
Chromosome Location	chr19:42052623-42052624
allele	A/C
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	chr19:42052605-42053083	GM12892	blood:	n/a	n/a
2	RUNX3	chr19:42052605-42053070	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:42052594-42053183	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:42052577-42052965	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:42052623-42053024	GM12891	blood:	n/a	n/a
6	SPI1	chr19:42052569-42053222	HL-60	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
7	POLR2A	chr19:42052542-42052665	GM12878	blood:	n/a	n/a
8	SPI1	chr19:42052619-42053071	GM12891	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
9	POLR2A	chr19:42052394-42053061	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:42051762-42053200	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:42052581-42053116	GM18505	blood:	n/a	n/a
12	SPI1	chr19:42052610-42053071	HL-60	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
13	POLR2A	chr19:42052578-42052976	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:42052526-42053231	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:42052552-42053080	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:42052575-42053090	GM19193	blood:	n/a	n/a
17	RFX5	chr19:42052570-42052752	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:42051883-42053162	GM12891	blood:	n/a	n/a
19	MTA3	chr19:42051886-42053257	GM12878	blood:	n/a	n/a
20	STAT5A	chr19:42052187-42053098	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:42051913-42053197	HL-60	blood:	n/a	n/a
22	POLR2A	chr19:42052601-42053077	GM15510	blood:	n/a	n/a
23	SPI1	chr19:42052597-42053084	GM12891	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42036448..42038567-chr19:42052200..42053873,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268027	TF binding region
CEACAM21	TF binding region
ENSG00000268355	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12327737	1.00[EUR][1000 genomes]
rs55777535	1.00[EUR][1000 genomes]
rs55786333	1.00[EUR][1000 genomes]
rs56030121	1.00[EUR][1000 genomes]
rs58173572	0.95[AFR][1000 genomes]
rs58563692	1.00[EUR][1000 genomes]
rs60118562	1.00[EUR][1000 genomes]
rs73560844	0.90[AFR][1000 genomes]
rs73560846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73931497	1.00[EUR][1000 genomes]
rs73931501	1.00[EUR][1000 genomes]
rs73931502	1.00[EUR][1000 genomes]
rs73933641	1.00[EUR][1000 genomes]
rs73933647	1.00[EUR][1000 genomes]
rs9973242	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:42050800-42053400	Enhancers	Spleen	Spleen
3	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
4	chr19:42051800-42053200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42051800-42053200	Enhancers	Placenta	Placenta
6	chr19:42051800-42053200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:42051800-42053400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:42051800-42053600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr19:42051800-42053600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr19:42051800-42054200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:42051800-42055400	Enhancers	Fetal Thymus	thymus
12	chr19:42052000-42052800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr19:42052000-42052800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:42052000-42052800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr19:42052000-42053000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:42052000-42053000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:42052000-42053000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:42052000-42053000	Flanking Active TSS	GM12878-XiMat	blood
19	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:42052000-42053200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:42052000-42053200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:42052000-42053200	Enhancers	Lung	lung
26	chr19:42052000-42053400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:42052000-42053400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:42052000-42053400	Enhancers	HUVEC	blood vessel
29	chr19:42052000-42053600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr19:42052000-42053600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr19:42052200-42052800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:42052200-42052800	Active TSS	Rectal Smooth Muscle	rectum
33	chr19:42052200-42053000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr19:42052200-42053000	Enhancers	Fetal Intestine Small	intestine
35	chr19:42052200-42053000	Flanking Active TSS	Thymus	Thymus
36	chr19:42052200-42053200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr19:42052200-42053600	Enhancers	Fetal Lung	lung
38	chr19:42052400-42052800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr19:42052400-42052800	Enhancers	Liver	Liver
40	chr19:42052400-42052800	Enhancers	Left Ventricle	heart
41	chr19:42052400-42052800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
42	chr19:42052400-42053000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:42052400-42053200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42052400-42053200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr19:42052600-42052800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr19:42052600-42052800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:42052600-42052800	Flanking Active TSS	Right Atrium	heart
48	chr19:42052600-42052800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr19:42052600-42053000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:42052600-42053000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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