Variant report

Variant	rs578026402
Chromosome Location	chr19:40005029-40005030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr19:40004940-40005048	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr19:40003820-40007253	PANC-1	pancreas:	n/a	chr19:40006697-40006706
3	SIN3AK20	chr19:40002596-40007321	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40004995-40005045	AoSMC	blood vessel:	n/a
2	chr19:40004995-40005045	HMEC	breast:	n/a
3	chr19:40004995-40005045	SK-N-SH_RA	brain:	n/a
4	chr19:40004995-40005045	LNCaP	prostate:	n/a
5	chr19:40004995-40005045	A549	lung:	n/a
6	chr19:40004995-40005045	AG04449	skin:	fetal
7	chr19:40004995-40005045	HRE	kidney:	n/a
8	chr19:40004995-40005045	HepG2	liver:	n/a
9	chr19:40004995-40005045	HL-60	blood:	n/a
10	chr19:40004995-40005045	Caco-2	colon:	n/a
11	chr19:40004995-40005045	BJ	skin:	n/a
12	chr19:40004995-40005045	SKMC	muscle:	n/a
13	chr19:40004995-40005045	NHDF-neo	bronchial:	n/a
14	chr19:40004995-40005045	U87	brain:	n/a
15	chr19:40004995-40005045	MCF-7	breast:	n/a
16	chr19:40004995-40005045	PrEC	prostate:	n/a
17	chr19:40004995-40005045	AG09309	skin:	n/a
18	chr19:40004995-40005045	Jurkat	blood:	n/a
19	chr19:40004995-40005045	RPTEC	kidney:	n/a
20	chr19:40004995-40005045	AG09319	gingival:	n/a
21	chr19:40004995-40005045	CMK	blood:	n/a
22	chr19:40004995-40005045	HRPEpiC	eye:	n/a
23	chr19:40004995-40005045	BE2_C	brain:	n/a
24	chr19:40004995-40005045	SK-N-SH	brain:	n/a
25	chr19:40004995-40005045	HIPEpiC	eye:	n/a
26	chr19:40004995-40005045	HNPCEpiC	eye:	n/a
27	chr19:40004995-40005045	IMR90	lung:	fetal
28	chr19:40004995-40005045	SAEC	small airway:	n/a
29	chr19:40004995-40005045	HCT-116	colon:	n/a
30	chr19:40004995-40005045	NT2-D1	testis:	n/a
31	chr19:40004995-40005045	SK-N-MC	brain:	n/a
32	chr19:40004995-40005045	HAEpiC	amniotic membrane:	n/a
33	chr19:40004995-40005045	ProgFib	skin:	n/a
34	chr19:40004995-40005045	AG10803	skin:	n/a
35	chr19:40004995-40005045	K562	blood:	n/a
36	chr19:40004995-40005045	HEK293	kidney:	embryo
37	chr19:40004995-40005045	T-47D	breast:	n/a
38	chr19:40004995-40005045	PANC-1	pancreas:	n/a
39	chr19:40004995-40005045	ovcar-3	ovarian:	n/a
40	chr19:40004995-40005045	HCPEpiC	choroid plexus:	n/a
41	chr19:40004995-40005045	HEEpiC	esophagus:	n/a
42	chr19:40004995-40005045	NB4	blood:	n/a
43	chr19:40004995-40005045	GM12891	blood:	n/a
44	chr19:40004995-40005045	GM12878	blood:	n/a
45	chr19:40004995-40005045	HRCEpiC	kidney:	n/a
46	chr19:40004995-40005045	ECC-1	luminal epithelium:	n/a
47	chr19:40004995-40005045	Hela-S3	cervix:	n/a
48	chr19:40004995-40005045	H1-hESC	embryonic stem cell:	embryo
49	chr19:40004995-40005045	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:40004995-40005045	Hepatocyte	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39935872..39937858-chr19:40003816..40005942,2	MCF-7	breast:
2	chr19:39926370..39927938-chr19:40004340..40006529,2	K562	blood:
3	chr19:40003141..40005134-chr19:40005498..40007914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186838	TF binding region
ENSG00000186838	CpG island
ENSG00000196235	Chromatin interaction
ENSG00000186838	Chromatin interaction
ENSG00000105193	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv522811	chr19:40004640-40008220	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39998400-40005400	Weak transcription	Right Atrium	heart
2	chr19:39999400-40005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:40004400-40005200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:40004600-40005400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
5	chr19:40004800-40005400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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