Variant report

Variant	rs567590457
Chromosome Location	chr1:246981249-246981250
allele	-/TA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:246981084-246981309	K562	blood:	n/a	n/a
2	POLR2A	chr1:246981202-246981585	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:246981214-246981365	GM12892	blood:	n/a	n/a
4	CTCF	chr1:246981193-246981338	H1-hESC	embryonic stem cell:	n/a	n/a
5	RUNX3	chr1:246981150-246981348	GM12878	blood:	n/a	n/a
6	MAFK	chr1:246981084-246981462	HepG2	liver:	n/a	n/a
7	EP300	chr1:246981084-246981466	HepG2	liver:	n/a	n/a
8	CTCF	chr1:246981202-246981377	GM19238	blood:	n/a	n/a
9	MAFK	chr1:246981099-246981284	K562	blood:	n/a	n/a
10	ZNF143	chr1:246981084-246981309	K562	blood:	n/a	n/a
11	MAFF	chr1:246981119-246981284	K562	blood:	n/a	n/a
12	BRCA1	chr1:246981086-246981459	GM12878	blood:	n/a	n/a
13	RCOR1	chr1:246981081-246981464	HepG2	liver:	n/a	n/a
14	SRF	chr1:246981178-246981354	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr1:246981097-246981356	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr1:246981166-246981387	GM19239	blood:	n/a	n/a
17	CTCF	chr1:246981101-246981290	K562	blood:	n/a	n/a
18	SMC3	chr1:246981083-246981463	HepG2	liver:	n/a	n/a
19	RUNX3	chr1:246981058-246981358	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:246981226-246981483	Gliobla	brain:	n/a	n/a
21	GTF2F1	chr1:246981101-246981456	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr1:246981120-246981400	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF2	chr1:246981089-246981460	HepG2	liver:	n/a	n/a
24	GTF2F1	chr1:246981105-246981452	K562	blood:	n/a	n/a
25	ELK1	chr1:246981086-246981290	K562	blood:	n/a	n/a
26	MAZ	chr1:246981107-246981449	K562	blood:	n/a	n/a
27	BHLHE40	chr1:246981086-246981455	K562	blood:	n/a	n/a
28	MAZ	chr1:246981085-246981458	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:246981205-246981388	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:246981140-246981290	K562	blood:	n/a	n/a
31	BACH1	chr1:246981107-246981306	K562	blood:	n/a	n/a
32	RFX5	chr1:246981084-246981469	HepG2	liver:	n/a	n/a
33	CTCF	chr1:246981213-246981304	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr1:246981199-246981365	GM12891	blood:	n/a	n/a
35	TBL1XR1	chr1:246981083-246981456	K562	blood:	n/a	n/a
36	BRCA1	chr1:246981085-246981462	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:246981212-246981507	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:246981190-246981421	A549	lung:	n/a	n/a
39	CTCF	chr1:246981160-246981310	GM12867	blood:	n/a	n/a
40	CHD2	chr1:246981088-246981468	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246980751..246981307-chr17:58678283..58679108,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235386	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv3435985	chr1:246980654-246983827	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3355609	chr1:246981129-246983277	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3416351	chr1:246981245-246981760	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246980800-246981400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr1:246980800-246981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:246981000-246981400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr1:246981000-246981400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:246981000-246981400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr1:246981000-246981400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr1:246981000-246981400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246981000-246981400	ZNF genes & repeats	Stomach Mucosa	stomach
11	chr1:246981200-246981400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:246981200-246981400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:246981200-246981400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:246981200-246981400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr1:246981200-246981400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr1:246981200-246981400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:246981200-246981400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:246981200-246981400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:246981200-246981400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:246981200-246981400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:246981200-246981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:246981200-246981400	Flanking Bivalent TSS/Enh	Lung	lung
23	chr1:246981200-246981400	Enhancers	Right Atrium	heart

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