Variant report

Variant	rs536586241
Chromosome Location	chr19:52104660-52104661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:52104600-52104750	GM12866	blood:	n/a	n/a
2	CTCF	chr19:52104537-52104896	GM19240	blood:	n/a	n/a
3	CTCF	chr19:52104560-52104710	GM12871	blood:	n/a	n/a
4	ELF1	chr19:52104350-52104870	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:52104659-52104664	GM12878	blood:	n/a	n/a
6	CTCF	chr19:52104660-52104810	GM12875	blood:	n/a	n/a
7	CTCF	chr19:52104580-52104730	GM12865	blood:	n/a	n/a
8	CTCF	chr19:52104540-52104690	GM06990	blood:	n/a	n/a
9	EBF1	chr19:52104476-52104687	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:52104322-52104863	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:52104180-52104843	GM19193	blood:	n/a	n/a
12	CTCF	chr19:52104520-52104670	GM12864	blood:	n/a	n/a
13	CTCF	chr19:52104600-52104750	GM12867	blood:	n/a	n/a
14	POLR2A	chr19:52104533-52104751	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:52103976-52106128	GM18505	blood:	n/a	n/a
16	CTCF	chr19:52104620-52104770	GM12871	blood:	n/a	n/a
17	CTCF	chr19:52104419-52104887	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52104632-52104682	SK-N-SH	brain:	n/a
2	chr19:52104632-52104682	SK-N-MC	brain:	n/a
3	chr19:52104632-52104682	PrEC	prostate:	n/a
4	chr19:52104632-52104682	NHDF-neo	bronchial:	n/a
5	chr19:52104632-52104682	A549	lung:	n/a
6	chr19:52104632-52104682	PANC-1	pancreas:	n/a
7	chr19:52104632-52104682	HIPEpiC	eye:	n/a
8	chr19:52104632-52104682	HRPEpiC	eye:	n/a
9	chr19:52104632-52104682	SAEC	small airway:	n/a
10	chr19:52104632-52104682	BE2_C	brain:	n/a
11	chr19:52104632-52104682	HEEpiC	esophagus:	n/a
12	chr19:52104632-52104682	HRE	kidney:	n/a
13	chr19:52104632-52104682	LNCaP	prostate:	n/a
14	chr19:52104632-52104682	NB4	blood:	n/a
15	chr19:52104632-52104682	Caco-2	colon:	n/a
16	chr19:52104632-52104682	HCPEpiC	choroid plexus:	n/a
17	chr19:52104632-52104682	Hela-S3	cervix:	n/a
18	chr19:52104632-52104682	K562	blood:	n/a
19	chr19:52104632-52104682	HAEpiC	amniotic membrane:	n/a
20	chr19:52104632-52104682	HEK293	kidney:	embryo
21	chr19:52104632-52104682	ProgFib	skin:	n/a
22	chr19:52104632-52104682	NH-A	brain:	n/a
23	chr19:52104632-52104682	AG04449	skin:	fetal
24	chr19:52104632-52104682	AG10803	skin:	n/a
25	chr19:52104632-52104682	GM06990	blood:	n/a
26	chr19:52104632-52104682	HepG2	liver:	n/a
27	chr19:52104632-52104682	HCM	heart:	n/a
28	chr19:52104632-52104682	AG09309	skin:	n/a
29	chr19:52104632-52104682	PFSK-1	brain:	n/a
30	chr19:52104632-52104682	HCT-116	colon:	n/a
31	chr19:52104632-52104682	MCF-7	breast:	n/a
32	chr19:52104632-52104682	SK-N-SH_RA	brain:	n/a
33	chr19:52104632-52104682	H1-hESC	embryonic stem cell:	embryo
34	chr19:52104632-52104682	U87	brain:	n/a
35	chr19:52104632-52104682	IMR90	lung:	fetal
36	chr19:52104632-52104682	HL-60	blood:	n/a
37	chr19:52104632-52104682	GM12892	blood:	n/a
38	chr19:52104632-52104682	ovcar-3	ovarian:	n/a
39	chr19:52104632-52104682	GM12891	blood:	n/a
40	chr19:52104632-52104682	GM12878	blood:	n/a
41	chr19:52104632-52104682	SKMC	muscle:	n/a
42	chr19:52104632-52104682	AG04450	lung:	fetal
43	chr19:52104632-52104682	BJ	skin:	n/a
44	chr19:52104632-52104682	GM19239	blood:	n/a
45	chr19:52104632-52104682	CMK	blood:	n/a
46	chr19:52104632-52104682	AoSMC	blood vessel:	n/a
47	chr19:52104632-52104682	MCF10A-Er-Src	breast:	n/a
48	chr19:52104632-52104682	Hepatocyte	liver:	n/a
49	chr19:52104632-52104682	T-47D	breast:	n/a
50	chr19:52104632-52104682	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
2	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269388	TF binding region
ENSG00000269388	CpG island
ENSG00000167765	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
3	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
4	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
8	nsv9740	chr19:52096231-52107021	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv962988	chr19:52099340-52106095	Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv510771	chr19:52103717-52153348	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
12	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	531 gene(s)	inside rSNPs	diseases
13	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
15	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52098600-52105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:52098600-52110400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:52098800-52110600	Weak transcription	Brain Anterior Caudate	brain
4	chr19:52099400-52110800	Weak transcription	Pancreas	Pancrea
5	chr19:52102200-52105400	Weak transcription	Gastric	stomach
6	chr19:52104000-52104800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr19:52104000-52105000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr19:52104000-52105800	Active TSS	Duodenum Mucosa	Duodenum
9	chr19:52104200-52105000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:52104200-52105000	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr19:52104200-52105000	Bivalent Enhancer	Spleen	Spleen
12	chr19:52104200-52105200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr19:52104400-52105000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:52104400-52105000	Bivalent/Poised TSS	Thymus	Thymus
15	chr19:52104400-52105200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:52104400-52105200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr19:52104400-52105800	Enhancers	Primary B cells from cord blood	blood
18	chr19:52104400-52110000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:52104600-52104800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:52104600-52105000	Active TSS	Primary B cells from peripheral blood	blood
21	chr19:52104600-52105000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:52104600-52105000	Flanking Active TSS	Right Ventricle	heart
23	chr19:52104600-52105000	Enhancers	GM12878-XiMat	blood
24	chr19:52104600-52105400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:52104600-52105800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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