Variant report

Variant	rs36058450
Chromosome Location	chr19:40725563-40725564
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	FOSL2	chr19:40725204-40726345	A549	lung:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
2	KAP1	chr19:40725562-40726014	U2OS	brain:	n/a	n/a
3	FOS	chr19:40725557-40726167	MCF10A-Er-Src	breast:	n/a	chr19:40725918-40725929 chr19:40725947-40725958 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725918-40725929 chr19:40725920-40725928 chr19:40725920-40725928
4	POLR2A	chr19:40725328-40726029	Hela-S3	cervix:	n/a	n/a
5	FOSL2	chr19:40725365-40726224	SK-N-SH	brain:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
6	EGR1	chr19:40725560-40726218	K562	blood:	n/a	n/a
7	NFIC	chr19:40725451-40726012	ECC-1	luminal epithelium:	n/a	n/a
8	TCF7L2	chr19:40725346-40726207	HCT-116	colon:	n/a	n/a
9	JUND	chr19:40725523-40726185	K562	blood:	n/a	chr19:40725947-40725958 chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
10	MAX	chr19:40725557-40726021	SK-N-SH	brain:	n/a	chr19:40725924-40725933
11	JUND	chr19:40725531-40726106	Hela-S3	cervix:	n/a	chr19:40725947-40725958 chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
12	POLR2A	chr19:40725422-40726296	HCT-116	colon:	n/a	n/a
13	MAX	chr19:40725148-40726431	A549	lung:	n/a	chr19:40725924-40725933
14	POLR2A	chr19:40725464-40726030	U87	brain:	n/a	n/a
15	TAF1	chr19:40725446-40726306	PFSK-1	brain:	n/a	n/a
16	JUND	chr19:40725327-40726683	HCT-116	colon:	n/a	chr19:40725947-40725958 chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
17	FOS	chr19:40725510-40726114	MCF10A-Er-Src	breast:	n/a	chr19:40725918-40725929 chr19:40725947-40725958 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725918-40725929 chr19:40725920-40725928 chr19:40725920-40725928
18	FOS	chr19:40725526-40726181	MCF10A-Er-Src	breast:	n/a	chr19:40725918-40725929 chr19:40725947-40725958 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725918-40725929 chr19:40725920-40725928 chr19:40725920-40725928
19	REST	chr19:40725506-40726209	PFSK-1	brain:	n/a	chr19:40726153-40726161
20	E2F4	chr19:40725549-40726086	MCF10A-Er-Src	breast:	n/a	n/a
21	USF1	chr19:40725431-40726428	HCT-116	colon:	n/a	chr19:40725923-40725934
22	USF1	chr19:40725510-40726164	A549	lung:	n/a	chr19:40725923-40725934
23	ZNF263	chr19:40725405-40726271	HEK293-T-REx	kidney:	n/a	chr19:40726016-40726025 chr19:40725707-40725728 chr19:40725747-40725768
24	JUN	chr19:40725543-40726173	K562	blood:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
25	POLR2A	chr19:40725510-40725978	HCT-116	colon:	n/a	n/a
26	USF2	chr19:40725515-40726289	Hela-S3	cervix:	n/a	chr19:40725923-40725934
27	REST	chr19:40721682-40727491	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
28	ZNF384	chr19:40725529-40725858	K562	blood:	n/a	n/a
29	REST	chr19:40725558-40725763	K562	blood:	n/a	n/a
30	REST	chr19:40725278-40726083	A549	lung:	n/a	n/a
31	E2F6	chr19:40725337-40726251	A549	lung:	n/a	n/a
32	MAX	chr19:40725377-40726317	A549	lung:	n/a	chr19:40725924-40725933
33	GTF2F1	chr19:40725560-40726039	Hela-S3	cervix:	n/a	n/a
34	NFIC	chr19:40725421-40726194	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr19:40725491-40726030	U87	brain:	n/a	n/a
36	FOSL1	chr19:40725449-40725876	K562	blood:	n/a	n/a
37	CBX3	chr19:40725470-40725958	K562	blood:	n/a	n/a
38	FOSL1	chr19:40725553-40726030	K562	blood:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
39	FOS	chr19:40725514-40726177	MCF10A-Er-Src	breast:	n/a	chr19:40725918-40725929 chr19:40725947-40725958 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725918-40725929 chr19:40725920-40725928 chr19:40725920-40725928
40	GATA2	chr19:40725544-40726067	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr19:40725203-40726430	PFSK-1	brain:	n/a	n/a
42	JUND	chr19:40725447-40726267	SK-N-SH	brain:	n/a	chr19:40725947-40725958 chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
43	USF1	chr19:40725370-40726361	HCT-116	colon:	n/a	chr19:40725923-40725934
44	FOSL1	chr19:40725395-40726239	HCT-116	colon:	n/a	chr19:40725918-40725929 chr19:40725916-40725927 chr19:40725921-40725928 chr19:40725920-40725928 chr19:40725920-40725928
45	SP1	chr19:40725385-40726404	A549	lung:	n/a	n/a
46	USF1	chr19:40725476-40726258	A549	lung:	n/a	chr19:40725923-40725934
47	REST	chr19:40721744-40727478	PANC-1	pancreas:	n/a	chr19:40721931-40721944 chr19:40726153-40726161
48	RAD21	chr19:40725516-40725898	A549	lung:	n/a	n/a
49	REST	chr19:40725106-40729998	PANC-1	pancreas:	n/a	chr19:40726153-40726161
50	USF1	chr19:40725559-40726264	K562	blood:	n/a	chr19:40725923-40725934

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40724342..40727794-chr19:40739430..40743149,3	K562	blood:
2	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:

Variant related genes	Relation type
TTC9B	TF binding region
ENSG00000130758	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11666690	0.84[ASN][1000 genomes]
rs11667443	0.84[ASN][1000 genomes]
rs11669006	0.84[ASN][1000 genomes]
rs11669332	0.84[ASN][1000 genomes]
rs11670860	0.92[ASN][1000 genomes]
rs11671439	0.84[ASN][1000 genomes]
rs17846842	0.92[ASN][1000 genomes]
rs2356230	0.90[ASN][1000 genomes]
rs28746190	0.92[ASN][1000 genomes]
rs3730052	0.92[ASN][1000 genomes]
rs3730055	0.92[ASN][1000 genomes]
rs3730262	0.82[ASN][1000 genomes]
rs41275746	0.92[ASN][1000 genomes]
rs41275748	0.92[ASN][1000 genomes]
rs41275750	0.92[ASN][1000 genomes]
rs58094119	0.92[ASN][1000 genomes]
rs60568017	0.92[EUR][1000 genomes]
rs7247515	0.92[ASN][1000 genomes]
rs7252506	0.90[ASN][1000 genomes]
rs73933218	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933225	0.92[ASN][1000 genomes]
rs73933232	0.84[ASN][1000 genomes]
rs73933236	0.84[ASN][1000 genomes]
rs73933237	0.84[ASN][1000 genomes]
rs73933238	0.84[ASN][1000 genomes]
rs873143	0.84[ASN][1000 genomes]
rs874269	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
5	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
2	chr19:40723800-40729000	Weak transcription	Gastric	stomach
3	chr19:40724200-40729000	Weak transcription	Pancreas	Pancrea
4	chr19:40724600-40725600	Weak transcription	Brain Angular Gyrus	brain
5	chr19:40724600-40726000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr19:40725200-40725600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:40725200-40725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40725200-40725600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:40725200-40725600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:40725200-40725600	Bivalent Enhancer	Right Ventricle	heart
11	chr19:40725200-40725600	Enhancers	HMEC	breast
12	chr19:40725200-40725600	Enhancers	HUVEC	blood vessel
13	chr19:40725200-40725600	Enhancers	NH-A	brain
14	chr19:40725200-40725600	Enhancers	NHDF-Ad	bronchial
15	chr19:40725200-40725600	Enhancers	NHLF	lung
16	chr19:40725200-40725800	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr19:40725200-40725800	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr19:40725200-40726200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:40725200-40726400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr19:40725200-40726400	Enhancers	K562	blood
21	chr19:40725400-40725600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:40725400-40725600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:40725400-40725600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr19:40725400-40725600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr19:40725400-40725600	Enhancers	HSMM	muscle
26	chr19:40725400-40725600	Enhancers	NHEK	skin
27	chr19:40725400-40725600	Enhancers	Osteobl	bone
28	chr19:40725400-40725800	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr19:40725400-40726000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:40725400-40726000	Active TSS	HSMMtube	muscle
31	chr19:40725400-40726200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:40725400-40726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:40725400-40726200	Flanking Active TSS	A549	lung
34	chr19:40725400-40726200	Flanking Active TSS	Hela-S3	cervix
35	chr19:40725400-40727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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