Variant report

Variant	rs531133252
Chromosome Location	chr19:55959124-55959125
allele	A/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	chr19:55958745-55959544	HL-60	blood:	n/a	n/a
2	MAX	chr19:55959114-55959419	Hela-S3	cervix:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
3	MYC	chr19:55958399-55959502	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
4	TCF12	chr19:55959009-55960261	A549	lung:	n/a	n/a
5	NFIC	chr19:55958688-55959430	ECC-1	luminal epithelium:	n/a	n/a
6	MAZ	chr19:55959056-55959336	Hela-S3	cervix:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
7	CEBPB	chr19:55959055-55959186	HepG2	liver:	n/a	chr19:55959106-55959119
8	FOS	chr19:55959013-55959370	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr19:55959106-55959307	MCF10A-Er-Src	breast:	n/a	n/a
10	CBX3	chr19:55959099-55960452	K562	blood:	n/a	n/a
11	MAFK	chr19:55959062-55959325	HepG2	liver:	n/a	n/a
12	MAX	chr19:55959073-55959437	A549	lung:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
13	NFIC	chr19:55958701-55959498	ECC-1	luminal epithelium:	n/a	n/a
14	MXI1	chr19:55959070-55959407	HepG2	liver:	n/a	n/a
15	MAX	chr19:55959118-55959421	HepG2	liver:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
16	MAX	chr19:55959101-55959422	SK-N-SH	brain:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
17	RAD21	chr19:55959066-55959236	Hela-S3	cervix:	n/a	n/a
18	MYC	chr19:55959080-55959469	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
19	BHLHE40	chr19:55958359-55959413	K562	blood:	n/a	n/a
20	USF2	chr19:55959110-55959404	Hela-S3	cervix:	n/a	n/a
21	MAX	chr19:55958257-55959496	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
22	SP1	chr19:55959062-55960394	A549	lung:	n/a	n/a
23	MYC	chr19:55958899-55959305	NB4	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
24	CTCF	chr19:55959120-55959270	NHEK	skin:	n/a	n/a
25	MAX	chr19:55958249-55959683	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
26	MAX	chr19:55959077-55959435	NB4	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
27	MXI1	chr19:55958466-55959920	SK-N-SH	brain:	n/a	n/a
28	USF1	chr19:55959069-55959429	A549	lung:	n/a	n/a
29	MAX	chr19:55958326-55959461	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
30	E2F6	chr19:55958487-55959449	K562	blood:	n/a	n/a
31	MAX	chr19:55958296-55959737	A549	lung:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
32	MYC	chr19:55959104-55959472	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
33	CEBPB	chr19:55959084-55959150	K562	blood:	n/a	chr19:55959106-55959119
34	MAX	chr19:55959104-55959449	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
35	BHLHE40	chr19:55958540-55959403	A549	lung:	n/a	n/a
36	CEBPB	chr19:55958956-55959275	Hela-S3	cervix:	n/a	chr19:55959106-55959119
37	MYC	chr19:55958325-55959498	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
38	POLR2A	chr19:55959068-55959390	MCF10A-Er-Src	breast:	n/a	n/a
39	MAFK	chr19:55959124-55959287	HepG2	liver:	n/a	n/a
40	E2F4	chr19:55959109-55959238	MCF10A-Er-Src	breast:	n/a	n/a
41	REST	chr19:55958843-55959470	A549	lung:	n/a	n/a
42	MXI1	chr19:55959105-55959419	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr19:55959098-55959385	K562	blood:	n/a	n/a
44	EP300	chr19:55958736-55959402	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr19:55958977-55959550	IMR90	lung:	n/a	n/a
46	USF1	chr19:55959060-55959378	A549	lung:	n/a	n/a
47	USF1	chr19:55958919-55959480	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr19:55958938-55959325	A549	lung:	n/a	chr19:55959106-55959119
49	FOS	chr19:55958938-55959312	MCF10A-Er-Src	breast:	n/a	n/a
50	SIN3AK20	chr19:55959023-55959917	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55959105-55959155	IMR90	lung:	fetal
2	chr19:55959105-55959155	HNPCEpiC	eye:	n/a
3	chr19:55959105-55959155	SK-N-SH	brain:	n/a
4	chr19:55959105-55959155	NH-A	brain:	n/a
5	chr19:55959105-55959155	HCM	heart:	n/a
6	chr19:55959105-55959155	Caco-2	colon:	n/a
7	chr19:55959105-55959155	SAEC	small airway:	n/a
8	chr19:55959105-55959155	CMK	blood:	n/a
9	chr19:55959105-55959155	NB4	blood:	n/a
10	chr19:55959105-55959155	NHDF-neo	bronchial:	n/a
11	chr19:55959105-55959155	HRE	kidney:	n/a
12	chr19:55959105-55959155	RPTEC	kidney:	n/a
13	chr19:55959105-55959155	GM06990	blood:	n/a
14	chr19:55959105-55959155	PANC-1	pancreas:	n/a
15	chr19:55959105-55959155	Hela-S3	cervix:	n/a
16	chr19:55959105-55959155	HCPEpiC	choroid plexus:	n/a
17	chr19:55959105-55959155	GM12892	blood:	n/a
18	chr19:55959105-55959155	SKMC	muscle:	n/a
19	chr19:55959105-55959155	AG04449	skin:	fetal
20	chr19:55959105-55959155	H1-hESC	embryonic stem cell:	embryo
21	chr19:55959105-55959155	AG09309	skin:	n/a
22	chr19:55959105-55959155	HCT-116	colon:	n/a
23	chr19:55959105-55959155	SK-N-MC	brain:	n/a
24	chr19:55959105-55959155	Jurkat	blood:	n/a
25	chr19:55959105-55959155	HMEC	breast:	n/a
26	chr19:55959105-55959155	MCF10A-Er-Src	breast:	n/a
27	chr19:55959105-55959155	HCF	heart:	n/a
28	chr19:55959105-55959155	K562	blood:	n/a
29	chr19:55959105-55959155	AoSMC	blood vessel:	n/a
30	chr19:55959105-55959155	A549	lung:	n/a
31	chr19:55959105-55959155	SK-N-SH_RA	brain:	n/a
32	chr19:55959105-55959155	HRPEpiC	eye:	n/a
33	chr19:55959105-55959155	HL-60	blood:	n/a
34	chr19:55959105-55959155	PFSK-1	brain:	n/a
35	chr19:55959105-55959155	HUVEC	blood vessel:	n/a
36	chr19:55959105-55959155	HepG2	liver:	n/a
37	chr19:55959105-55959155	NHBE	bronchial:	n/a
38	chr19:55959105-55959155	ovcar-3	ovarian:	n/a
39	chr19:55959105-55959155	HAEpiC	amniotic membrane:	n/a
40	chr19:55959105-55959155	BJ	skin:	n/a
41	chr19:55959105-55959155	HRCEpiC	kidney:	n/a
42	chr19:55959105-55959155	T-47D	breast:	n/a
43	chr19:55959105-55959155	ProgFib	skin:	n/a
44	chr19:55959105-55959155	AG04450	lung:	fetal
45	chr19:55959105-55959155	HEEpiC	esophagus:	n/a
46	chr19:55959105-55959155	GM12878	blood:	n/a
47	chr19:55959105-55959155	NT2-D1	testis:	n/a
48	chr19:55959105-55959155	ECC-1	luminal epithelium:	n/a
49	chr19:55959105-55959155	Hepatocyte	liver:	n/a
50	chr19:55959105-55959155	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55951334..55954027-chr19:55956073..55960032,6	K562	blood:
2	chr19:55720436..55722894-chr19:55958561..55960707,2	K562	blood:
3	chr19:55951993..55955744-chr19:55955995..55960866,9	K562	blood:
4	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
5	chr19:55917660..55921323-chr19:55957478..55961144,4	MCF-7	breast:
6	chr19:55953882..55955402-chr19:55958561..55961003,2	MCF-7	breast:

Variant related genes	Relation type
SHISA7	TF binding region
SHISA7	CpG island
ENSG00000080031	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000187902	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	esv3421154	chr19:55958040-55962238	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55954200-55962800	Weak transcription	Right Atrium	heart
2	chr19:55957400-55959600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:55957400-55959800	Enhancers	NHEK	skin
4	chr19:55957400-55960200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:55957400-55960400	Enhancers	HMEC	breast
6	chr19:55957600-55959600	Enhancers	Esophagus	oesophagus
7	chr19:55957800-55959400	Weak transcription	Pancreas	Pancrea
8	chr19:55957800-55959600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:55958200-55960600	Enhancers	K562	blood
10	chr19:55958400-55959200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:55958400-55959200	Enhancers	Brain Anterior Caudate	brain
12	chr19:55958400-55959800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr19:55958400-55960600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr19:55958400-55960600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:55958400-55961000	Enhancers	Brain Hippocampus Middle	brain
16	chr19:55958600-55959200	Enhancers	Brain Angular Gyrus	brain
17	chr19:55958600-55959400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:55958600-55959400	Enhancers	Right Ventricle	heart
19	chr19:55958600-55959800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:55958600-55961400	Enhancers	Brain Substantia Nigra	brain
21	chr19:55958800-55959400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:55958800-55959400	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr19:55958800-55959800	Enhancers	A549	lung
24	chr19:55958800-55961200	Enhancers	Gastric	stomach
25	chr19:55959000-55959200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:55959000-55959200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr19:55959000-55959600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:55959000-55959600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:55959000-55959600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr19:55959000-55959800	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr19:55959000-55960200	Enhancers	Cortex derived primary cultured neurospheres	brain

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