Variant report

Variant	rs73629994
Chromosome Location	chr19:57050065-57050066
allele	C/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	chr19:57049466-57050133	HL-60	blood:	n/a	n/a
2	GABPA	chr19:57049626-57050334	HL-60	blood:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
3	CREB1	chr19:57049532-57050520	A549	lung:	n/a	n/a
4	FOXP2	chr19:57049637-57050132	PFSK-1	brain:	n/a	n/a
5	GABPA	chr19:57049542-57050167	A549	lung:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820
6	SIX5	chr19:57049647-57050160	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr19:57049943-57050125	K562	blood:	n/a	n/a
8	TCF12	chr19:57049583-57050190	ECC-1	luminal epithelium:	n/a	n/a
9	SIX5	chr19:57049582-57050153	A549	lung:	n/a	n/a
10	ZNF143	chr19:57049625-57050247	GM12878	blood:	n/a	chr19:57050043-57050062 chr19:57050039-57050057
11	POLR2A	chr19:57049843-57050089	A549	lung:	n/a	n/a
12	GABPA	chr19:57049523-57050321	SK-N-SH	brain:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
13	ELF1	chr19:57049529-57050352	SK-N-SH	brain:	n/a	n/a
14	SIX5	chr19:57049602-57050145	A549	lung:	n/a	n/a
15	MAZ	chr19:57049495-57051243	IMR90	lung:	n/a	n/a
16	SRF	chr19:57049694-57050164	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:57049525-57050192	H1-neurons	neurons:	n/a	n/a
18	TCF12	chr19:57049206-57050178	A549	lung:	n/a	n/a
19	EP300	chr19:57049398-57050160	A549	lung:	n/a	n/a
20	SP1	chr19:57049472-57050156	A549	lung:	n/a	chr19:57049942-57049956 chr19:57049782-57049791 chr19:57049781-57049792 chr19:57049762-57049773 chr19:57049763-57049777
21	POLR2A	chr19:57049813-57050088	A549	lung:	n/a	n/a
22	MAX	chr19:57049566-57050150	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr19:57049524-57050115	ECC-1	luminal epithelium:	n/a	n/a
24	NRF1	chr19:57049616-57050096	H1-hESC	embryonic stem cell:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820
25	MAX	chr19:57049420-57050169	A549	lung:	n/a	n/a
26	SIN3A	chr19:57049510-57050118	H1-hESC	embryonic stem cell:	n/a	chr19:57049912-57049925 chr19:57049794-57049805
27	ETS1	chr19:57049655-57050124	A549	lung:	n/a	chr19:57050037-57050050
28	ETS1	chr19:57049489-57050154	A549	lung:	n/a	chr19:57050037-57050050
29	ESR1	chr19:57049725-57050116	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr19:57049596-57050107	A549	lung:	n/a	n/a
31	GABPA	chr19:57049577-57050339	HL-60	blood:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
32	TCF12	chr19:57049575-57050150	ECC-1	luminal epithelium:	n/a	n/a
33	ELF1	chr19:57049673-57050120	A549	lung:	n/a	n/a
34	GATA3	chr19:57049490-57050242	A549	lung:	n/a	n/a
35	GABPA	chr19:57049507-57050361	SK-N-SH	brain:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820 chr19:57050290-57050299 chr19:57050288-57050297
36	E2F6	chr19:57049535-57050135	A549	lung:	n/a	chr19:57049906-57049916 chr19:57049807-57049816
37	ELF1	chr19:57049613-57050167	SK-N-SH	brain:	n/a	n/a
38	ELK4	chr19:57049729-57050113	HEK293	kidney:	n/a	n/a
39	CREB1	chr19:57049922-57050115	A549	lung:	n/a	n/a
40	POLR2A	chr19:57049526-57050108	ECC-1	luminal epithelium:	n/a	n/a
41	SP1	chr19:57049470-57050553	A549	lung:	n/a	chr19:57050332-57050342 chr19:57049942-57049956 chr19:57049782-57049791 chr19:57049781-57049792 chr19:57050307-57050317 chr19:57049762-57049773 chr19:57049763-57049777
42	GABPA	chr19:57049376-57050161	A549	lung:	n/a	chr19:57049806-57049817 chr19:57049808-57049817 chr19:57049803-57049817 chr19:57049806-57049820
43	CREB1	chr19:57049572-57050152	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr19:57049929-57050108	SK-N-SH	brain:	n/a	n/a
45	TAF1	chr19:57049486-57050155	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr19:57049544-57050118	A549	lung:	n/a	n/a
47	ZNF143	chr19:57049573-57050638	H1-hESC	embryonic stem cell:	n/a	chr19:57050043-57050062 chr19:57050039-57050057 chr19:57050268-57050286
48	POLR2A	chr19:57049768-57050120	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr19:57049551-57050071	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr19:57049096-57051000	H1-neurons	neurons:	n/a	chr19:57049698-57049706 chr19:57049912-57049925

Variant related genes	Relation type
ZFP28	TF binding region
ENSG00000267421	TF binding region

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

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

rs_ID	r²[population]
rs1029709	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10406304	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12979404	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2189699	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4801170	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4801172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101060	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8107062	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs917406	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv912519	chr19:57020754-57065189	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57047400-57077800	ZNF genes & repeats	Liver	Liver
2	chr19:57048800-57050400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:57048800-57051200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr19:57048800-57051400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr19:57048800-57051600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:57048800-57053000	ZNF genes & repeats	Placenta	Placenta
7	chr19:57048800-57053000	ZNF genes & repeats	HSMM	muscle
8	chr19:57048800-57053800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:57049000-57050600	Active TSS	Fetal Brain Female	brain
10	chr19:57049000-57050800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:57049000-57050800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:57049000-57050800	Active TSS	NHLF	lung
13	chr19:57049000-57051400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:57049200-57050600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:57049200-57050600	Active TSS	Fetal Lung	lung
16	chr19:57049200-57050600	Active TSS	Stomach Mucosa	stomach
17	chr19:57049200-57050800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:57049200-57050800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:57049200-57050800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:57049200-57050800	Active TSS	Psoas Muscle	Psoas
21	chr19:57049200-57050800	Active TSS	Right Atrium	heart
22	chr19:57049200-57051000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:57049200-57051000	Active TSS	Fetal Kidney	kidney
24	chr19:57049200-57051200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:57049200-57051200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:57049200-57051400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr19:57049400-57050400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:57049400-57050600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr19:57049400-57050600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:57049400-57050800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:57049400-57050800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:57049400-57050800	Active TSS	Aorta	Aorta
33	chr19:57049400-57050800	Active TSS	Brain Angular Gyrus	brain
34	chr19:57049400-57050800	Active TSS	Gastric	stomach
35	chr19:57049400-57050800	Active TSS	Left Ventricle	heart
36	chr19:57049400-57050800	Active TSS	Ovary	ovary
37	chr19:57049400-57050800	Active TSS	NHDF-Ad	bronchial
38	chr19:57049400-57051000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr19:57049400-57051000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:57049400-57051000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:57049400-57051000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:57049400-57051200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr19:57049400-57051200	Active TSS	Small Intestine	intestine
44	chr19:57049400-57051400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr19:57049600-57050400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:57049600-57050400	Active TSS	Colonic Mucosa	Colon
47	chr19:57049600-57050400	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:57049600-57050600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:57049600-57050600	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr19:57049600-57050600	Active TSS	Primary T killer memory cells from peripheral blood	blood

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