Variant report

Variant	rs568780698
Chromosome Location	chr4:26861581-26861582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:26861478-26862812	HCT-116	colon:	n/a	n/a
2	MXI1	chr4:26861480-26863616	HepG2	liver:	n/a	n/a
3	TBP	chr4:26861551-26863177	K562	blood:	n/a	n/a
4	JUND	chr4:26861211-26861590	K562	blood:	n/a	n/a
5	CHD1	chr4:26861257-26864940	IMR90	lung:	n/a	n/a
6	POLR2A	chr4:26861417-26862724	HCT-116	colon:	n/a	n/a
7	SIN3A	chr4:26861486-26863615	H1-hESC	embryonic stem cell:	n/a	n/a
8	ARID3A	chr4:26861560-26862531	HepG2	liver:	n/a	n/a
9	POLR2A	chr4:26861462-26862868	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:26861436-26862764	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:26861499-26862859	K562	blood:	n/a	n/a
12	POLR2A	chr4:26861513-26863438	HepG2	liver:	n/a	n/a
13	KAP1	chr4:26861501-26862376	HEK293	kidney:	n/a	n/a
14	MXI1	chr4:26861551-26864198	IMR90	lung:	n/a	n/a
15	POLR2A	chr4:26861575-26862699	K562	blood:	n/a	n/a
16	POLR2A	chr4:26861580-26863390	ProgFib	skin:	n/a	n/a
17	POLR2A	chr4:26861402-26862632	K562	blood:	n/a	n/a
18	GATA1	chr4:26859064-26863326	PBDE	blood:	n/a	chr4:26859422-26859430 chr4:26861271-26861284 chr4:26859453-26859461 chr4:26861273-26861281
19	IRF1	chr4:26861572-26862655	K562	blood:	n/a	chr4:26862242-26862256
20	POLR2A	chr4:26861469-26863166	MCF-7	breast:	n/a	n/a
21	ZMIZ1	chr4:26861521-26861581	K562	blood:	n/a	n/a
22	POLR2A	chr4:26861414-26863601	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:26861485-26863244	PBDE	blood:	n/a	n/a
24	WRNIP1	chr4:26861539-26862205	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:26861350-26862652	K562	blood:	n/a	n/a
26	MAX	chr4:26861467-26863436	ECC-1	luminal epithelium:	n/a	n/a
27	MTA3	chr4:26861388-26862695	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:26861574-26863457	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:26861454-26863589	Raji	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-1	chr4:26861428-26861650	XLOC_003912
2	lnc-CCKAR-1	chr4:26861437-26861650	XLOC_003912
3	lnc-CCKAR-1	chr4:26861428-26861650	XLOC_003912
4	lnc-CCKAR-1	chr4:26861319-26861650	NONHSAT095891
5	lnc-CCKAR-1	chr4:26861238-26861650	NONHSAT095890

No data

Variant related genes	Relation type
STIM2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3403917	chr4:26861379-26864227	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26858600-26862800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:26859400-26862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:26859600-26861800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr4:26859600-26861800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr4:26859600-26861800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr4:26859600-26862000	Flanking Active TSS	Fetal Thymus	thymus
7	chr4:26859800-26861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:26859800-26861800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr4:26859800-26861800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr4:26859800-26861800	Enhancers	Spleen	Spleen
11	chr4:26859800-26862000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:26859800-26862000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr4:26859800-26862000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr4:26859800-26862000	Flanking Active TSS	Dnd41	blood
15	chr4:26859800-26862000	Flanking Active TSS	Hela-S3	cervix
16	chr4:26860000-26861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:26860000-26861600	Weak transcription	Aorta	Aorta
18	chr4:26860000-26861600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:26860000-26861800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:26860000-26861800	Weak transcription	Ovary	ovary
21	chr4:26860200-26861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:26860200-26861600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:26860200-26861600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:26860200-26861600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:26860200-26861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:26860200-26861600	Enhancers	Fetal Heart	heart
27	chr4:26860200-26861600	Enhancers	Left Ventricle	heart
28	chr4:26860200-26861600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr4:26860200-26861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:26860200-26861800	Enhancers	Small Intestine	intestine
31	chr4:26860200-26861800	Flanking Active TSS	NHEK	skin
32	chr4:26860200-26864600	Active TSS	Fetal Muscle Trunk	muscle
33	chr4:26860400-26861600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:26860400-26861600	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:26860400-26861600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr4:26860400-26861600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:26860400-26861600	Enhancers	Brain Cingulate Gyrus	brain
38	chr4:26860400-26861600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:26860400-26861600	Weak transcription	Esophagus	oesophagus
40	chr4:26860400-26861600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:26860400-26861600	Enhancers	Right Ventricle	heart
42	chr4:26860400-26861600	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:26860400-26861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:26860400-26861800	Weak transcription	Lung	lung
45	chr4:26860600-26861600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:26860600-26861600	Enhancers	Brain Angular Gyrus	brain
47	chr4:26860600-26861600	Enhancers	Fetal Stomach	stomach
48	chr4:26860600-26861800	Flanking Active TSS	Thymus	Thymus
49	chr4:26860600-26862000	Flanking Active TSS	GM12878-XiMat	blood
50	chr4:26860600-26862000	Flanking Active TSS	HMEC	breast

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