Variant report

Variant	rs532458956
Chromosome Location	chr7:25220709-25220710
allele	G/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	CTCF	chr7:25220700-25220850	HFF-Myc	foreskin:	n/a	n/a
4	CHD2	chr7:25220653-25220854	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:25220700-25220850	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr7:25220700-25220850	SAEC	small airway:	n/a	n/a
7	CTCF	chr7:25220700-25220850	HAc	cerebellar:	n/a	n/a
8	CTCF	chr7:25220700-25220850	GM12878	blood:	n/a	n/a
9	CTCF	chr7:25220680-25220830	SK-N-SH_RA	brain:	n/a	n/a
10	CHD2	chr7:25219883-25220935	K562	blood:	n/a	n/a
11	CTCF	chr7:25220660-25220810	HepG2	liver:	n/a	n/a
12	CTCF	chr7:25220700-25220850	AG04449	skin:	n/a	n/a
13	CTCF	chr7:25220680-25220830	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr7:25220640-25220790	A549	lung:	n/a	n/a
15	CTCF	chr7:25220580-25220730	NHEK	skin:	n/a	n/a
16	CTCF	chr7:25220620-25220770	GM12864	blood:	n/a	n/a
17	MAZ	chr7:25218903-25221116	IMR90	lung:	n/a	n/a
18	CTCF	chr7:25220706-25220900	K562	blood:	n/a	n/a
19	CTCF	chr7:25219262-25221015	A549	lung:	n/a	chr7:25220085-25220098 chr7:25220084-25220100 chr7:25220083-25220101 chr7:25219639-25219652
20	CTCF	chr7:25220692-25220917	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:25220700-25220850	HFF	foreskin:	n/a	n/a
22	CTCF	chr7:25220700-25220850	AG10803	skin:	n/a	n/a
23	CTCF	chr7:25220700-25220850	HMF	breast:	n/a	n/a
24	CTCF	chr7:25220540-25220830	HRE	kidney:	n/a	n/a
25	CTCF	chr7:25220680-25220830	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr7:25220680-25220830	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr7:25220700-25220850	GM12872	blood:	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
ENSG00000234406	TF binding region
C7orf31	TF binding region
ENSG00000234406	Chromatin interaction
ENSG00000172115	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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