Variant report

Variant	rs73927987
Chromosome Location	chr19:35810153-35810154
allele	C/G/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	RUNX3	chr19:35809844-35810255	GM12878	blood:	n/a	n/a
2	MXI1	chr19:35809899-35810334	Hela-S3	cervix:	n/a	n/a
3	SP1	chr19:35809410-35810658	HCT-116	colon:	n/a	n/a
4	FOSL2	chr19:35809739-35810437	MCF-7	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
5	STAT3	chr19:35810005-35810196	MCF10A-Er-Src	breast:	n/a	chr19:35810048-35810056
6	ESR1	chr19:35809961-35810318	T-47D	breast:	n/a	chr19:35809995-35810012 chr19:35810153-35810168
7	USF1	chr19:35809756-35810300	A549	lung:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
8	MAX	chr19:35809740-35810450	MCF-7	breast:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
9	GATA3	chr19:35809719-35810467	MCF-7	breast:	n/a	chr19:35810188-35810197
10	STAT3	chr19:35810014-35810170	MCF10A-Er-Src	breast:	n/a	chr19:35810048-35810056
11	BHLHE40	chr19:35809901-35810260	A549	lung:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
12	MAZ	chr19:35809621-35810280	K562	blood:	n/a	chr19:35809953-35809963
13	NR3C1	chr19:35809894-35810329	A549	lung:	n/a	chr19:35810004-35810013 chr19:35810235-35810248
14	ESR1	chr19:35809960-35810282	T-47D	breast:	n/a	chr19:35809995-35810012 chr19:35810153-35810168
15	USF1	chr19:35809824-35810214	A549	lung:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
16	ELK1	chr19:35809771-35810311	Hela-S3	cervix:	n/a	n/a
17	TCF7L2	chr19:35809915-35810406	MCF-7	breast:	n/a	n/a
18	BHLHE40	chr19:35809843-35810360	HepG2	liver:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
19	STAT3	chr19:35810023-35810223	MCF10A-Er-Src	breast:	n/a	chr19:35810048-35810056
20	JUN	chr19:35809998-35810198	HepG2	liver:	n/a	chr19:35810003-35810013 chr19:35810003-35810013 chr19:35810074-35810087 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
21	ATF3	chr19:35809873-35810229	K562	blood:	n/a	n/a
22	MAX	chr19:35809725-35810468	MCF-7	breast:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
23	POLR2A	chr19:35810130-35810350	Hela-S3	cervix:	n/a	n/a
24	MAX	chr19:35809778-35810319	K562	blood:	n/a	chr19:35809953-35809963
25	POLR2A	chr19:35809681-35810485	Hela-S3	cervix:	n/a	n/a
26	NR3C1	chr19:35809784-35810360	A549	lung:	n/a	chr19:35810004-35810013 chr19:35810235-35810248
27	MAFF	chr19:35810055-35810266	HepG2	liver:	n/a	n/a
28	EP300	chr19:35809813-35810289	Hela-S3	cervix:	n/a	chr19:35809996-35810003
29	MAX	chr19:35809901-35810272	HepG2	liver:	n/a	chr19:35809953-35809963
30	POLR2A	chr19:35809775-35810454	U87	brain:	n/a	n/a
31	USF1	chr19:35809870-35810240	K562	blood:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
32	E2F6	chr19:35809652-35810395	A549	lung:	n/a	chr19:35810112-35810123
33	SMC3	chr19:35809747-35810403	Hela-S3	cervix:	n/a	chr19:35809857-35809867
34	MYC	chr19:35809896-35810306	MCF10A-Er-Src	breast:	n/a	chr19:35809953-35809963
35	USF1	chr19:35809491-35810518	HCT-116	colon:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
36	RCOR1	chr19:35809678-35810240	K562	blood:	n/a	n/a
37	EP300	chr19:35809802-35810483	MCF-7	breast:	n/a	chr19:35809996-35810003
38	MAX	chr19:35809901-35810205	K562	blood:	n/a	chr19:35809953-35809963
39	MYC	chr19:35809927-35810294	MCF-7	breast:	n/a	chr19:35809953-35809963
40	FOS	chr19:35809771-35810362	MCF10A-Er-Src	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
41	MAX	chr19:35809863-35810340	SK-N-SH	brain:	n/a	chr19:35809953-35809963
42	FOXM1	chr19:35809729-35810393	MCF-7	breast:	n/a	n/a
43	ZNF143	chr19:35809764-35810400	Hela-S3	cervix:	n/a	n/a
44	FOS	chr19:35809881-35810361	MCF10A-Er-Src	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
45	RCOR1	chr19:35809885-35810237	HepG2	liver:	n/a	n/a
46	USF1	chr19:35809884-35810257	SK-N-SH	brain:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
47	FOS	chr19:35809833-35810362	MCF10A-Er-Src	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
48	RUNX3	chr19:35809927-35810234	GM12878	blood:	n/a	n/a
49	USF1	chr19:35809929-35810293	ECC-1	luminal epithelium:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
50	EGR1	chr19:35809944-35810219	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
2	chr19:35607895..35610299-chr19:35808518..35810247,2	MCF-7	breast:
3	chr19:35759827..35760405-chr19:35809677..35810195,2	MCF-7	breast:
4	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
5	chr19:35604701..35607129-chr19:35809231..35811359,2	MCF-7	breast:
6	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
7	chr19:35807878..35810423-chr19:36035383..36039227,3	MCF-7	breast:
8	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:

Variant related genes	Relation type
CD22	TF binding region
ENSG00000269553	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000089356	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16970221	1.00[AMR][1000 genomes]
rs56778651	1.00[AMR][1000 genomes]
rs7249002	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1006379	chr19:35798572-35810821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35798200-35811400	Weak transcription	Liver	Liver
2	chr19:35804200-35811000	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:35805600-35811400	Enhancers	K562	blood
4	chr19:35806800-35810600	Enhancers	Primary B cells from cord blood	blood
5	chr19:35807800-35812000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:35807800-35815800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:35808000-35811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:35808000-35812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:35808000-35812800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:35808200-35812000	Enhancers	Placenta	Placenta
11	chr19:35808400-35810200	Enhancers	Ovary	ovary
12	chr19:35808400-35812000	Enhancers	Spleen	Spleen
13	chr19:35808600-35810600	Enhancers	HepG2	liver
14	chr19:35808600-35811600	Enhancers	Fetal Muscle Trunk	muscle
15	chr19:35808600-35812000	Enhancers	Brain Cingulate Gyrus	brain
16	chr19:35808800-35810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:35808800-35811000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:35809200-35810600	Enhancers	NHEK	skin
19	chr19:35809400-35810200	Enhancers	Colonic Mucosa	Colon
20	chr19:35809400-35810400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:35809400-35810400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:35809400-35810400	Enhancers	Lung	lung
23	chr19:35809400-35810600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:35809400-35810600	Flanking Active TSS	Hela-S3	cervix
25	chr19:35809400-35810600	Enhancers	HMEC	breast
26	chr19:35809400-35810600	Enhancers	NHLF	lung
27	chr19:35809400-35810800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:35809400-35811600	Enhancers	NHDF-Ad	bronchial
29	chr19:35809400-35812000	Enhancers	Brain Substantia Nigra	brain
30	chr19:35809400-35812200	Enhancers	Brain Hippocampus Middle	brain
31	chr19:35809600-35810200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:35809600-35810200	Enhancers	NH-A	brain
33	chr19:35809600-35810400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:35809600-35810400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:35809600-35810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:35809600-35810400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:35809600-35810400	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr19:35809600-35810400	Enhancers	Duodenum Mucosa	Duodenum
39	chr19:35809600-35810400	Enhancers	Esophagus	oesophagus
40	chr19:35809600-35810400	Enhancers	Fetal Lung	lung
41	chr19:35809600-35810600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:35809600-35810600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:35809600-35810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:35809600-35810600	Enhancers	Left Ventricle	heart
45	chr19:35809600-35810600	Enhancers	Right Atrium	heart
46	chr19:35809600-35810600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr19:35809600-35810600	Enhancers	HUVEC	blood vessel
48	chr19:35809600-35810600	Enhancers	Osteobl	bone
49	chr19:35809600-35811600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr19:35809600-35812000	Enhancers	Brain Angular Gyrus	brain

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