Variant report

Variant	rs181190502
Chromosome Location	chr19:55958497-55958498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:55958399-55959502	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
2	MAX	chr19:55958329-55958854	K562	blood:	n/a	n/a
3	MAX	chr19:55958380-55958699	K562	blood:	n/a	n/a
4	BHLHE40	chr19:55958359-55959413	K562	blood:	n/a	n/a
5	MAX	chr19:55958257-55959496	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
6	MAX	chr19:55958249-55959683	K562	blood:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
7	MXI1	chr19:55958466-55959920	SK-N-SH	brain:	n/a	n/a
8	ZNF384	chr19:55958170-55958549	K562	blood:	n/a	n/a
9	MAX	chr19:55958326-55959461	ECC-1	luminal epithelium:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
10	MAX	chr19:55958378-55958773	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr19:55958487-55959449	K562	blood:	n/a	n/a
12	MAX	chr19:55958296-55959737	A549	lung:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
13	MYC	chr19:55958325-55959498	MCF10A-Er-Src	breast:	n/a	chr19:55959267-55959276 chr19:55959268-55959275 chr19:55959266-55959276
14	BHLHE40	chr19:55958415-55958511	HepG2	liver:	n/a	n/a
15	E2F6	chr19:55958445-55958601	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55958493-55958543	Hepatocyte	liver:	n/a
2	chr19:55958493-55958543	BE2_C	brain:	n/a
3	chr19:55958493-55958543	HRPEpiC	eye:	n/a
4	chr19:55958493-55958543	AG04450	lung:	fetal
5	chr19:55958493-55958543	HL-60	blood:	n/a
6	chr19:55958493-55958543	A549	lung:	n/a
7	chr19:55958493-55958543	GM12891	blood:	n/a
8	chr19:55958493-55958543	HCT-116	colon:	n/a
9	chr19:55958493-55958543	RPTEC	kidney:	n/a
10	chr19:55958493-55958543	K562	blood:	n/a
11	chr19:55958493-55958543	Hela-S3	cervix:	n/a
12	chr19:55958493-55958543	HCM	heart:	n/a
13	chr19:55958493-55958543	NT2-D1	testis:	n/a
14	chr19:55958493-55958543	HAEpiC	amniotic membrane:	n/a
15	chr19:55958493-55958543	PrEC	prostate:	n/a
16	chr19:55958493-55958543	Caco-2	colon:	n/a
17	chr19:55958493-55958543	NHDF-neo	bronchial:	n/a
18	chr19:55958493-55958543	SK-N-MC	brain:	n/a
19	chr19:55958493-55958543	NH-A	brain:	n/a
20	chr19:55958493-55958543	AG10803	skin:	n/a
21	chr19:55958493-55958543	SK-N-SH_RA	brain:	n/a
22	chr19:55958493-55958543	U87	brain:	n/a
23	chr19:55958493-55958543	NB4	blood:	n/a
24	chr19:55958493-55958543	HUVEC	blood vessel:	n/a
25	chr19:55958493-55958543	AG04449	skin:	fetal
26	chr19:55958493-55958543	IMR90	lung:	fetal
27	chr19:55958493-55958543	HEK293	kidney:	embryo
28	chr19:55958493-55958543	H1-hESC	embryonic stem cell:	embryo
29	chr19:55958493-55958543	T-47D	breast:	n/a
30	chr19:55958493-55958543	GM19239	blood:	n/a
31	chr19:55958493-55958543	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:55958493-55958543	HIPEpiC	eye:	n/a
33	chr19:55958493-55958543	HCF	heart:	n/a
34	chr19:55958493-55958543	ovcar-3	ovarian:	n/a
35	chr19:55958493-55958543	GM12878	blood:	n/a
36	chr19:55958493-55958543	HNPCEpiC	eye:	n/a
37	chr19:55958493-55958543	SK-N-SH	brain:	n/a
38	chr19:55958493-55958543	HCPEpiC	choroid plexus:	n/a
39	chr19:55958493-55958543	CMK	blood:	n/a
40	chr19:55958493-55958543	PFSK-1	brain:	n/a
41	chr19:55958493-55958543	HEEpiC	esophagus:	n/a
42	chr19:55958493-55958543	Jurkat	blood:	n/a
43	chr19:55958493-55958543	SAEC	small airway:	n/a
44	chr19:55958493-55958543	MCF10A-Er-Src	breast:	n/a
45	chr19:55958493-55958543	NHBE	bronchial:	n/a
46	chr19:55958493-55958543	BJ	skin:	n/a
47	chr19:55958493-55958543	MCF-7	breast:	n/a
48	chr19:55958493-55958543	PANC-1	pancreas:	n/a
49	chr19:55958493-55958543	ECC-1	luminal epithelium:	n/a
50	chr19:55958493-55958543	AoSMC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55951334..55954027-chr19:55956073..55960032,6	K562	blood:
2	chr19:55951993..55955744-chr19:55955995..55960866,9	K562	blood:
3	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
4	chr19:55897394..55899897-chr19:55955952..55958626,2	K562	blood:
5	chr19:55956258..55958945-chr19:55964103..55966551,2	K562	blood:
6	chr19:55917660..55921323-chr19:55957478..55961144,4	MCF-7	breast:

No data

Variant related genes	Relation type
SHISA7	TF binding region
SHISA7	CpG island
ENSG00000187902	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000108107	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55954200-55962800	Weak transcription	Right Atrium	heart
2	chr19:55955400-55958600	Weak transcription	Brain Substantia Nigra	brain
3	chr19:55957400-55959600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:55957400-55959800	Enhancers	NHEK	skin
5	chr19:55957400-55960200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:55957400-55960400	Enhancers	HMEC	breast
7	chr19:55957600-55959600	Enhancers	Esophagus	oesophagus
8	chr19:55957800-55959400	Weak transcription	Pancreas	Pancrea
9	chr19:55957800-55959600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:55958200-55960600	Enhancers	K562	blood
11	chr19:55958400-55958600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:55958400-55958800	Enhancers	Brain Cingulate Gyrus	brain
13	chr19:55958400-55959000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr19:55958400-55959200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:55958400-55959200	Enhancers	Brain Anterior Caudate	brain
16	chr19:55958400-55959800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr19:55958400-55960600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr19:55958400-55960600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:55958400-55961000	Enhancers	Brain Hippocampus Middle	brain

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