Variant report

Variant	rs576528577
Chromosome Location	chr1:246981128-246981129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 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	MAFK	chr1:246981084-246981462	HepG2	liver:	n/a	n/a
3	EP300	chr1:246981084-246981466	HepG2	liver:	n/a	n/a
4	MAFK	chr1:246981099-246981284	K562	blood:	n/a	n/a
5	ZNF143	chr1:246981084-246981309	K562	blood:	n/a	n/a
6	MAFF	chr1:246981119-246981284	K562	blood:	n/a	n/a
7	BRCA1	chr1:246981086-246981459	GM12878	blood:	n/a	n/a
8	RCOR1	chr1:246981081-246981464	HepG2	liver:	n/a	n/a
9	SIN3AK20	chr1:246981097-246981356	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr1:246981101-246981290	K562	blood:	n/a	n/a
11	SMC3	chr1:246981083-246981463	HepG2	liver:	n/a	n/a
12	RUNX3	chr1:246981058-246981358	GM12878	blood:	n/a	n/a
13	GTF2F1	chr1:246981101-246981456	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr1:246981120-246981400	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr1:246981089-246981460	HepG2	liver:	n/a	n/a
16	GTF2F1	chr1:246981105-246981452	K562	blood:	n/a	n/a
17	ELK1	chr1:246981086-246981290	K562	blood:	n/a	n/a
18	MAZ	chr1:246981107-246981449	K562	blood:	n/a	n/a
19	BHLHE40	chr1:246981086-246981455	K562	blood:	n/a	n/a
20	MAZ	chr1:246981085-246981458	HepG2	liver:	n/a	n/a
21	BACH1	chr1:246981107-246981306	K562	blood:	n/a	n/a
22	RFX5	chr1:246981084-246981469	HepG2	liver:	n/a	n/a
23	TBL1XR1	chr1:246981083-246981456	K562	blood:	n/a	n/a
24	BRCA1	chr1:246981085-246981462	HepG2	liver:	n/a	n/a
25	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: 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	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246976400-246981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:246980400-246981200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:246980800-246981400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr1:246980800-246981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:246981000-246981200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:246981000-246981200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:246981000-246981400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr1:246981000-246981400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:246981000-246981400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:246981000-246981400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr1:246981000-246981400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr1:246981000-246981400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:246981000-246981400	ZNF genes & repeats	Stomach Mucosa	stomach

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