Variant report

Variant	rs369763734
Chromosome Location	chr2:11809750-11809751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:11809750-11810227	K562	blood:	n/a	n/a
2	MAX	chr2:11809685-11810416	ECC-1	luminal epithelium:	n/a	n/a
3	GABPA	chr2:11809737-11810318	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr2:11809705-11810387	HepG2	liver:	n/a	n/a
5	MAX	chr2:11809585-11810617	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr2:11809597-11810560	PANC-1	pancreas:	n/a	n/a
7	MAX	chr2:11809666-11810440	A549	lung:	n/a	n/a
8	MAX	chr2:11809665-11810430	HepG2	liver:	n/a	n/a
9	MAX	chr2:11809585-11810621	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr2:11809607-11810540	ECC-1	luminal epithelium:	n/a	n/a
11	E2F6	chr2:11809562-11810646	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr2:11809596-11810771	PFSK-1	brain:	n/a	n/a
13	SIN3AK20	chr2:11809745-11810386	MCF-7	breast:	n/a	n/a
14	REST	chr2:11809688-11810323	GM12878	blood:	n/a	n/a
15	REST	chr2:11809692-11810654	ECC-1	luminal epithelium:	n/a	n/a
16	REST	chr2:11809599-11810474	PFSK-1	brain:	n/a	n/a
17	CTBP2	chr2:11809745-11810473	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr2:11809640-11810294	IMR90	lung:	n/a	n/a
19	MAX	chr2:11809708-11810462	MCF-7	breast:	n/a	n/a
20	E2F6	chr2:11809571-11810559	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr2:11809602-11810487	HepG2	liver:	n/a	n/a
22	MXI1	chr2:11809630-11810462	IMR90	lung:	n/a	n/a
23	TCF12	chr2:11809725-11810440	ECC-1	luminal epithelium:	n/a	n/a
24	REST	chr2:11809620-11810701	HL-60	blood:	n/a	n/a
25	MAX	chr2:11809638-11810429	HepG2	liver:	n/a	n/a
26	REST	chr2:11809704-11810397	PANC-1	pancreas:	n/a	n/a
27	REST	chr2:11809654-11810545	PANC-1	pancreas:	n/a	n/a
28	REST	chr2:11809622-11810338	HepG2	liver:	n/a	n/a
29	MAX	chr2:11809632-11810398	ECC-1	luminal epithelium:	n/a	n/a
30	REST	chr2:11809645-11810499	HL-60	blood:	n/a	n/a
31	REST	chr2:11809631-11810565	MCF-7	breast:	n/a	n/a
32	REST	chr2:11809650-11810744	A549	lung:	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11798200-11809800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11807400-11815200	Weak transcription	Hela-S3	cervix
3	chr2:11809200-11810200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11809200-11810400	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:11809200-11810800	Enhancers	Ovary	ovary
6	chr2:11809400-11810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:11809400-11810600	Active TSS	Brain Anterior Caudate	brain
8	chr2:11809600-11809800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11809600-11809800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:11809600-11809800	Enhancers	Right Ventricle	heart
11	chr2:11809600-11809800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:11809600-11809800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr2:11809600-11810000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr2:11809600-11810200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:11809600-11810200	Bivalent Enhancer	Lung	lung
16	chr2:11809600-11810400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr2:11809600-11810400	Bivalent Enhancer	Spleen	Spleen
18	chr2:11809600-11810600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr2:11809600-11810600	Enhancers	Left Ventricle	heart
20	chr2:11809600-11810600	Enhancers	Pancreas	Pancrea

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