Variant report

Variant	rs73560846
Chromosome Location	chr19:42052090-42052091
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	chr19:42051858-42052390	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:42051917-42052186	GM12891	blood:	n/a	n/a
3	TAF1	chr19:42051915-42052204	GM12892	blood:	n/a	n/a
4	ELF1	chr19:42051889-42052213	K562	blood:	n/a	chr19:42052114-42052125 chr19:42052115-42052124
5	GABPA	chr19:42051891-42052340	HL-60	blood:	n/a	n/a
6	POLR2A	chr19:42051948-42052185	GM12878	blood:	n/a	n/a
7	TAF1	chr19:42051985-42052218	GM12891	blood:	n/a	n/a
8	SPI1	chr19:42051911-42052252	GM12891	blood:	n/a	n/a
9	POLR2A	chr19:42051762-42053200	GM12892	blood:	n/a	n/a
10	GABPA	chr19:42051936-42052324	K562	blood:	n/a	n/a
11	ELK1	chr19:42051970-42052289	GM12878	blood:	n/a	chr19:42052114-42052123 chr19:42052114-42052123
12	RUNX3	chr19:42051892-42052323	GM12878	blood:	n/a	n/a
13	TAF1	chr19:42051955-42052237	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:42051883-42053162	GM12891	blood:	n/a	n/a
15	MTA3	chr19:42051886-42053257	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:42051926-42052334	GM19193	blood:	n/a	n/a
17	ELF1	chr19:42051789-42052392	GM12878	blood:	n/a	chr19:42052114-42052125 chr19:42052115-42052124
18	ELK1	chr19:42052085-42052176	K562	blood:	n/a	chr19:42052114-42052123 chr19:42052114-42052123
19	POLR2A	chr19:42051913-42053197	HL-60	blood:	n/a	n/a
20	POLR2A	chr19:42051865-42052309	GM12892	blood:	n/a	n/a
21	POLR2A	chr19:42051794-42052350	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:42051903-42052410	HL-60	blood:	n/a	n/a
23	REST	chr19:42051905-42052322	HL-60	blood:	n/a	chr19:42052295-42052308
24	SPI1	chr19:42051939-42052428	HL-60	blood:	n/a	n/a
25	RUNX3	chr19:42051892-42052350	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:42051908-42052500	GM12891	blood:	n/a	n/a
27	POLR2A	chr19:42051938-42052178	GM12878	blood:	n/a	n/a
28	ELF1	chr19:42051872-42052376	GM12878	blood:	n/a	chr19:42052114-42052125 chr19:42052115-42052124
29	POLR2A	chr19:42051917-42052219	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
CEACAM21	TF binding region
ENSG00000268027	TF binding region

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]
rs59823881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60118562	1.00[EUR][1000 genomes]
rs73560844	0.90[AFR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42048600-42052200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr19:42050600-42052200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42050800-42053400	Enhancers	Spleen	Spleen
5	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
6	chr19:42051800-42052200	Enhancers	Thymus	Thymus
7	chr19:42051800-42053200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr19:42051800-42053200	Enhancers	Placenta	Placenta
9	chr19:42051800-42053200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:42051800-42053400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42051800-42053600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr19:42051800-42053600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:42051800-42054200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:42051800-42055400	Enhancers	Fetal Thymus	thymus
15	chr19:42052000-42052200	Enhancers	Duodenum Mucosa	Duodenum
16	chr19:42052000-42052200	Bivalent Enhancer	HepG2	liver
17	chr19:42052000-42052400	Enhancers	Adipose Nuclei	Adipose
18	chr19:42052000-42052600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr19:42052000-42052600	Enhancers	Fetal Muscle Trunk	muscle
20	chr19:42052000-42052600	Enhancers	Right Atrium	heart
21	chr19:42052000-42052600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr19:42052000-42052600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr19:42052000-42052800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr19:42052000-42052800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:42052000-42052800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr19:42052000-42053000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:42052000-42053000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:42052000-42053000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:42052000-42053000	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr19:42052000-42053200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr19:42052000-42053200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:42052000-42053200	Enhancers	Lung	lung
37	chr19:42052000-42053400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr19:42052000-42053400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:42052000-42053400	Enhancers	HUVEC	blood vessel
40	chr19:42052000-42053600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr19:42052000-42053600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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