Variant report

Variant	rs569704296
Chromosome Location	chr2:11809910-11809911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr2:11809860-11810351	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr2:11809818-11810504	A549	lung:	n/a	n/a
3	CCNT2	chr2:11809750-11810227	K562	blood:	n/a	n/a
4	MAX	chr2:11809685-11810416	ECC-1	luminal epithelium:	n/a	n/a
5	RCOR1	chr2:11809813-11810355	IMR90	lung:	n/a	n/a
6	GABPA	chr2:11809737-11810318	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr2:11809870-11810354	A549	lung:	n/a	n/a
8	MAX	chr2:11809852-11810270	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr2:11809892-11810281	A549	lung:	n/a	n/a
10	GABPA	chr2:11809786-11810130	K562	blood:	n/a	n/a
11	E2F6	chr2:11809833-11810315	A549	lung:	n/a	n/a
12	GTF2F1	chr2:11809909-11810189	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr2:11809705-11810387	HepG2	liver:	n/a	n/a
14	FOXP2	chr2:11809898-11810166	SK-N-MC	brain:	n/a	n/a
15	MAX	chr2:11809585-11810617	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr2:11809774-11810522	PANC-1	pancreas:	n/a	n/a
17	USF1	chr2:11809847-11810253	A549	lung:	n/a	n/a
18	RAD21	chr2:11809860-11810271	HepG2	liver:	n/a	n/a
19	YY1	chr2:11809850-11810341	H1-hESC	embryonic stem cell:	n/a	chr2:11810265-11810279 chr2:11810268-11810282
20	MXI1	chr2:11809885-11810303	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr2:11809597-11810560	PANC-1	pancreas:	n/a	n/a
22	REST	chr2:11809840-11810501	PANC-1	pancreas:	n/a	n/a
23	RAD21	chr2:11809816-11810296	ECC-1	luminal epithelium:	n/a	chr2:11810260-11810273
24	MAX	chr2:11809666-11810440	A549	lung:	n/a	n/a
25	TEAD4	chr2:11809780-11810403	A549	lung:	n/a	n/a
26	MAX	chr2:11809665-11810430	HepG2	liver:	n/a	n/a
27	REST	chr2:11809883-11810504	U87	brain:	n/a	n/a
28	USF1	chr2:11809871-11810230	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr2:11809837-11810428	K562	blood:	n/a	n/a
30	REST	chr2:11809864-11810582	MCF-7	breast:	n/a	n/a
31	YY1	chr2:11809774-11810360	HepG2	liver:	n/a	chr2:11810265-11810279 chr2:11810268-11810282
32	USF1	chr2:11809781-11810230	A549	lung:	n/a	n/a
33	REST	chr2:11809768-11810372	PFSK-1	brain:	n/a	n/a
34	REST	chr2:11809780-11810336	GM12878	blood:	n/a	n/a
35	MAX	chr2:11809859-11810300	HepG2	liver:	n/a	n/a
36	MAX	chr2:11809585-11810621	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr2:11809897-11810251	K562	blood:	n/a	n/a
38	CREB1	chr2:11809773-11810311	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF1	chr2:11809817-11810260	H1-hESC	embryonic stem cell:	n/a	n/a
40	RCOR1	chr2:11809903-11810282	HepG2	liver:	n/a	n/a
41	USF2	chr2:11809850-11810270	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr2:11809607-11810540	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr2:11809885-11810504	U87	brain:	n/a	n/a
44	USF1	chr2:11809863-11810111	K562	blood:	n/a	n/a
45	E2F6	chr2:11809562-11810646	H1-hESC	embryonic stem cell:	n/a	n/a
46	MXI1	chr2:11809861-11810317	HepG2	liver:	n/a	n/a
47	MAX	chr2:11809881-11810425	MCF-7	breast:	n/a	n/a
48	GABPA	chr2:11809808-11810338	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr2:11809870-11810284	MCF-7	breast:	n/a	n/a
50	REST	chr2:11809596-11810771	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11803893..11805526-chr2:11807982..11810176,2	K562	blood:
2	chr2:11804337..11807531-chr2:11808380..11811214,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230044	TF binding region
ENSG00000230044	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	esv3422919	chr2:11808526-11811074	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11807400-11815200	Weak transcription	Hela-S3	cervix
2	chr2:11809200-11810200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11809200-11810400	Active TSS	Brain Cingulate Gyrus	brain
4	chr2:11809200-11810800	Enhancers	Ovary	ovary
5	chr2:11809400-11810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:11809400-11810600	Active TSS	Brain Anterior Caudate	brain
7	chr2:11809600-11810000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr2:11809600-11810200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:11809600-11810200	Bivalent Enhancer	Lung	lung
10	chr2:11809600-11810400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr2:11809600-11810400	Bivalent Enhancer	Spleen	Spleen
12	chr2:11809600-11810600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr2:11809600-11810600	Enhancers	Left Ventricle	heart
14	chr2:11809600-11810600	Enhancers	Pancreas	Pancrea
15	chr2:11809800-11810000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:11809800-11810000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:11809800-11810000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:11809800-11810000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:11809800-11810000	Flanking Active TSS	Right Ventricle	heart
20	chr2:11809800-11810000	Bivalent Enhancer	HepG2	liver
21	chr2:11809800-11810200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr2:11809800-11810200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr2:11809800-11810200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr2:11809800-11810200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:11809800-11810200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:11809800-11810200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:11809800-11810200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr2:11809800-11810200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr2:11809800-11810200	Enhancers	Esophagus	oesophagus
30	chr2:11809800-11810200	Bivalent Enhancer	HMEC	breast
31	chr2:11809800-11810400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:11809800-11810400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:11809800-11810400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:11809800-11810400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:11809800-11810400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:11809800-11810400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:11809800-11810400	Enhancers	Liver	Liver
41	chr2:11809800-11810400	Active TSS	Brain Angular Gyrus	brain
42	chr2:11809800-11810400	Bivalent Enhancer	Fetal Brain Male	brain
43	chr2:11809800-11810400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr2:11809800-11810400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr2:11809800-11810600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr2:11809800-11810600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:11809800-11810600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:11809800-11810600	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr2:11809800-11810600	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr2:11809800-11810600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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