Variant report

Variant	rs530768766
Chromosome Location	chr7:25220601-25220602
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr7:25219821-25220914	HepG2	liver:	n/a	n/a
2	CTCF	chr7:25218978-25221275	SK-N-SH	brain:	n/a	chr7:25220085-25220098 chr7:25220084-25220100 chr7:25220083-25220101 chr7:25219639-25219652
3	MTA3	chr7:25219149-25220626	GM12878	blood:	n/a	n/a
4	RELA	chr7:25219248-25220605	GM18951	blood:	n/a	n/a
5	CHD2	chr7:25219883-25220935	K562	blood:	n/a	n/a
6	CTCF	chr7:25220580-25220730	NHEK	skin:	n/a	n/a
7	MAZ	chr7:25218903-25221116	IMR90	lung:	n/a	n/a
8	CTCF	chr7:25219262-25221015	A549	lung:	n/a	chr7:25220085-25220098 chr7:25220084-25220100 chr7:25220083-25220101 chr7:25219639-25219652
9	CTCF	chr7:25220540-25220830	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25218102..25221598-chr7:25223987..25227915,4	K562	blood:
2	chr7:25162226..25166939-chr7:25217425..25223469,13	K562	blood:
3	chr7:25217763..25221342-chr7:25223056..25226500,4	K562	blood:
4	chr7:25163234..25166939-chr7:25217425..25221477,8	K562	blood:

Variant related genes	Relation type
C7orf31	TF binding region
ENSG00000234406	TF binding region
ENSG00000172115	Chromatin interaction
ENSG00000234406	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv887845	chr7:25220519-25276424	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25218800-25220800	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:25219400-25221000	Active TSS	Colon Smooth Muscle	Colon
3	chr7:25220200-25220800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:25220200-25220800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:25220200-25220800	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:25220200-25220800	Flanking Active TSS	K562	blood
7	chr7:25220200-25221000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr7:25220400-25220800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:25220400-25222000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:25220600-25220800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:25220600-25220800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:25220600-25220800	Active TSS	Primary B cells from cord blood	blood
13	chr7:25220600-25220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:25220600-25220800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:25220600-25220800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:25220600-25220800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:25220600-25220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:25220600-25220800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:25220600-25220800	Enhancers	Adipose Nuclei	Adipose
20	chr7:25220600-25220800	Enhancers	Brain Angular Gyrus	brain
21	chr7:25220600-25220800	Enhancers	Brain Substantia Nigra	brain
22	chr7:25220600-25220800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:25220600-25220800	Enhancers	Fetal Stomach	stomach
24	chr7:25220600-25220800	Enhancers	Lung	lung
25	chr7:25220600-25220800	Enhancers	Right Ventricle	heart
26	chr7:25220600-25220800	Enhancers	Dnd41	blood
27	chr7:25220600-25220800	Enhancers	HepG2	liver
28	chr7:25220600-25221000	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:25220600-25221000	Active TSS	Stomach Mucosa	stomach
30	chr7:25220600-25221400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:25220600-25221400	Enhancers	Spleen	Spleen
32	chr7:25220600-25233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:25220600-25233800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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