Variant report

Variant	rs73607019
Chromosome Location	chr19:55852418-55852419
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	chr19:55850320-55853763	K562	blood:	n/a	n/a
2	UBTF	chr19:55851022-55852863	K562	blood:	n/a	n/a
3	UBTF	chr19:55852247-55852864	K562	blood:	n/a	n/a
4	JUN	chr19:55849822-55852421	K562	blood:	n/a	chr19:55850212-55850225 chr19:55850654-55850663 chr19:55851126-55851135
5	MXI1	chr19:55852288-55852970	GM12878	blood:	n/a	n/a
6	TFAP2C	chr19:55850004-55853125	Hela-S3	cervix:	n/a	chr19:55852681-55852696
7	CHD1	chr19:55852297-55852568	GM12878	blood:	n/a	n/a
8	CTCF	chr19:55852280-55852430	Caco-2	colon:	n/a	n/a
9	EGR1	chr19:55852276-55852946	K562	blood:	n/a	chr19:55852576-55852589 chr19:55852735-55852749 chr19:55852576-55852589 chr19:55852763-55852776 chr19:55852577-55852586 chr19:55852764-55852778
10	CTCF	chr19:55852214-55852438	GM10248	blood:	n/a	n/a
11	CTCF	chr19:55852266-55852447	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr19:55849731-55853168	SK-N-SH	brain:	n/a	chr19:55850630-55850645 chr19:55850628-55850643
13	REST	chr19:55849678-55852977	H1-neurons	neurons:	n/a	chr19:55850854-55850867 chr19:55852837-55852857 chr19:55852394-55852407 chr19:55852837-55852857 chr19:55850816-55850825 chr19:55852837-55852857 chr19:55852179-55852192 chr19:55852840-55852853
14	CHD2	chr19:55852311-55852425	K562	blood:	n/a	n/a
15	CTCF	chr19:55852337-55852455	MCF-7	breast:	n/a	n/a
16	CHD2	chr19:55852188-55852435	GM12878	blood:	n/a	n/a
17	TEAD4	chr19:55852130-55853171	K562	blood:	n/a	n/a
18	MAZ	chr19:55852136-55852969	GM12878	blood:	n/a	chr19:55852733-55852743
19	ZBTB7A	chr19:55850990-55852824	K562	blood:	n/a	chr19:55852298-55852307 chr19:55852172-55852181
20	SMC3	chr19:55852281-55852794	Hela-S3	cervix:	n/a	chr19:55852736-55852746 chr19:55852671-55852681
21	SMARCB1	chr19:55849985-55852698	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr19:55849997-55853223	SK-N-MC	brain:	n/a	n/a
23	SP1	chr19:55852273-55852908	A549	lung:	n/a	chr19:55852735-55852749 chr19:55852728-55852742 chr19:55852739-55852748 chr19:55852774-55852786 chr19:55852771-55852785 chr19:55852774-55852786 chr19:55852575-55852584 chr19:55852738-55852750 chr19:55852603-55852612
24	CTCF	chr19:55852157-55852453	GM19239	blood:	n/a	n/a
25	CTCF	chr19:55852380-55852530	GM12869	blood:	n/a	n/a
26	CTCF	chr19:55852340-55852490	HAc	cerebellar:	n/a	n/a
27	CTCF	chr19:55852300-55852450	GM06990	blood:	n/a	n/a
28	POLR2A	chr19:55851937-55852872	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr19:55850361-55853075	PFSK-1	brain:	n/a	n/a
30	RAD21	chr19:55852216-55852500	SK-N-SH_RA	brain:	n/a	n/a
31	ZBTB7A	chr19:55851388-55852638	ECC-1	luminal epithelium:	n/a	chr19:55852298-55852307 chr19:55852172-55852181
32	TFAP2A	chr19:55850046-55853057	Hela-S3	cervix:	n/a	chr19:55852683-55852693 chr19:55852683-55852693 chr19:55851680-55851695 chr19:55850418-55850429 chr19:55852174-55852185 chr19:55852683-55852693 chr19:55850418-55850429 chr19:55852683-55852693 chr19:55850418-55850429 chr19:55850418-55850429 chr19:55852173-55852185
33	POLR2A	chr19:55849959-55853034	K562	blood:	n/a	n/a
34	JUND	chr19:55852305-55852819	K562	blood:	n/a	n/a
35	POLR2A	chr19:55852226-55852894	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr19:55852300-55852450	HPF	lung:	n/a	n/a
37	E2F6	chr19:55852204-55852478	K562	blood:	n/a	chr19:55852401-55852416
38	NR2F2	chr19:55852268-55853344	K562	blood:	n/a	n/a
39	POLR2A	chr19:55851980-55852930	H1-neurons	neurons:	n/a	n/a
40	HMGN3	chr19:55850513-55852473	K562	blood:	n/a	n/a
41	CTCF	chr19:55852280-55852430	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:55850432-55853023	K562	blood:	n/a	n/a
43	ZMIZ1	chr19:55852271-55853133	K562	blood:	n/a	n/a
44	HEY1	chr19:55851406-55852514	K562	blood:	n/a	n/a
45	CTCF	chr19:55852211-55852454	NHEK	skin:	n/a	n/a
46	TBL1XR1	chr19:55852372-55852568	K562	blood:	n/a	n/a
47	ZNF263	chr19:55851889-55852488	HEK293-T-REx	kidney:	n/a	chr19:55852117-55852138 chr19:55852095-55852104
48	CTCF	chr19:55852221-55852451	K562	blood:	n/a	n/a
49	CTCF	chr19:55852176-55852460	K562	blood:	n/a	n/a
50	POLR2A	chr19:55849951-55852760	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55851487..55853796-chr19:55888849..55891400,2	MCF-7	breast:
2	chr19:55769739..55771684-chr19:55850814..55852866,2	MCF-7	breast:
3	chr19:55850053..55852875-chr19:55917610..55920825,5	MCF-7	breast:
4	chr19:55720239..55723202-chr19:55851102..55853910,2	MCF-7	breast:
5	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
6	chr19:55813078..55815879-chr19:55851167..55852905,2	K562	blood:
7	chr19:55788649..55794261-chr19:55847636..55852828,10	K562	blood:
8	chr19:55847527..55853936-chr19:55895162..55898950,13	K562	blood:
9	chr19:55849062..55852611-chr19:55879307..55883496,5	MCF-7	breast:
10	chr19:55814784..55816804-chr19:55850965..55853492,2	K562	blood:
11	chr19:55790045..55791863-chr19:55848758..55853021,3	MCF-7	breast:
12	chr19:55813052..55817410-chr19:55850511..55853343,6	MCF-7	breast:
13	chr19:55789812..55792675-chr19:55848548..55852419,5	K562	blood:
14	chr19:55849530..55854944-chr19:55915448..55920939,7	K562	blood:
15	chr19:55851377..55854272-chr19:55873809..55875979,2	MCF-7	breast:
16	chr19:55851056..55852786-chr19:55880756..55882333,2	MCF-7	breast:
17	chr19:55849599..55852921-chr19:55970880..55974521,5	K562	blood:
18	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
19	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:

Variant related genes	Relation type
SUV420H2	TF binding region
ENSG00000095752	Chromatin interaction
ENSG00000080031	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000180043	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000269275	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10416740	1.00[EUR][1000 genomes]
rs11879143	1.00[EUR][1000 genomes]
rs12609926	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58051372	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59262883	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59493644	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59695872	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59944279	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73605199	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73605200	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73605202	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73607003	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607005	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607008	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73607024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer 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 miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55849800-55852800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:55849800-55852800	Active TSS	A549	lung
3	chr19:55849800-55853000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:55850000-55852800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:55850000-55852800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:55850000-55852800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:55850000-55853200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:55850200-55852800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr19:55850200-55852800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:55850200-55852800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:55850200-55852800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:55850200-55852800	Active TSS	Fetal Kidney	kidney
13	chr19:55850200-55852800	Active TSS	Ovary	ovary
14	chr19:55850400-55852800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:55850400-55852800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:55850400-55852800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:55850400-55852800	Active TSS	Colon Smooth Muscle	Colon
18	chr19:55850400-55852800	Active TSS	K562	blood
19	chr19:55850400-55853000	Active TSS	Brain Anterior Caudate	brain
20	chr19:55850600-55852800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:55850600-55852800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:55850600-55852800	Active TSS	Fetal Intestine Small	intestine
23	chr19:55850600-55852800	Active TSS	GM12878-XiMat	blood
24	chr19:55850600-55852800	Active TSS	HSMM	muscle
25	chr19:55851200-55852800	Active TSS	HSMMtube	muscle
26	chr19:55851400-55852600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:55851400-55852600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:55851400-55852600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:55851400-55852600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:55851400-55852600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:55851400-55852600	Flanking Active TSS	Placenta	Placenta
32	chr19:55851400-55852600	Active TSS	NHDF-Ad	bronchial
33	chr19:55851400-55852800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:55851400-55852800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:55851400-55853000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:55851400-55853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:55851400-55853200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:55851400-55853200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:55851600-55852600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:55851600-55852600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:55851600-55852600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr19:55851600-55852600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr19:55851600-55852600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:55851600-55852600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:55851600-55852600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr19:55851600-55852600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:55851600-55852600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:55851600-55852600	Flanking Active TSS	Liver	Liver
49	chr19:55851600-55852600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr19:55851600-55852600	Flanking Active TSS	Esophagus	oesophagus

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