Variant report

Variant	rs375633473
Chromosome Location	chr7:25220849-25220850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:25220800-25220950	NHEK	skin:	n/a	n/a
2	CTCF	chr7:25220780-25220930	HCPEpiC	choroid plexus:	n/a	n/a
3	CHD2	chr7:25219821-25220914	HepG2	liver:	n/a	n/a
4	CTCF	chr7:25218978-25221275	SK-N-SH	brain:	n/a	chr7:25220085-25220098 chr7:25220084-25220100 chr7:25220083-25220101 chr7:25219639-25219652
5	CTCF	chr7:25220740-25220890	AG09319	gingival:	n/a	n/a
6	CTCF	chr7:25220700-25220850	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr7:25220740-25220890	K562	blood:	n/a	n/a
8	CTCF	chr7:25220760-25220910	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr7:25220778-25220924	LNCaP	prostate:	n/a	n/a
10	CHD2	chr7:25220653-25220854	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:25220700-25220850	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr7:25220700-25220850	SAEC	small airway:	n/a	n/a
13	CTCF	chr7:25220700-25220850	HAc	cerebellar:	n/a	n/a
14	CTCF	chr7:25220800-25220950	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr7:25220787-25220890	HepG2	liver:	n/a	n/a
16	CTCF	chr7:25220740-25220890	HMEC	breast:	n/a	n/a
17	CTCF	chr7:25220700-25220850	GM12878	blood:	n/a	n/a
18	CTCF	chr7:25220800-25220950	HCM	heart:	n/a	n/a
19	CTCF	chr7:25220740-25220890	GM12874	blood:	n/a	n/a
20	CTCF	chr7:25220720-25220870	BJ	skin:	n/a	n/a
21	CTCF	chr7:25220740-25220890	HCFaa	heart:	n/a	n/a
22	CTCF	chr7:25220800-25220950	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr7:25220740-25220890	NHEK	skin:	n/a	n/a
24	CTCF	chr7:25220740-25220890	AG04449	skin:	n/a	n/a
25	CTCF	chr7:25220740-25220890	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr7:25220760-25220910	HPF	lung:	n/a	n/a
27	CHD2	chr7:25219883-25220935	K562	blood:	n/a	n/a
28	CTCF	chr7:25220800-25220950	Caco-2	colon:	n/a	n/a
29	CTCF	chr7:25220760-25220910	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr7:25220780-25220930	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr7:25220840-25220990	RPTEC	kidney:	n/a	n/a
32	CTCF	chr7:25220740-25220890	BJ	skin:	n/a	n/a
33	CTCF	chr7:25220800-25220950	GM06990	blood:	n/a	n/a
34	CTCF	chr7:25220820-25220970	HCT-116	colon:	n/a	n/a
35	CTCF	chr7:25220780-25220930	RPTEC	kidney:	n/a	n/a
36	CTCF	chr7:25220720-25220870	NHLF	lung:	n/a	n/a
37	CTCF	chr7:25220740-25220890	BE2_C	brain:	n/a	n/a
38	CTCF	chr7:25220700-25220850	AG04449	skin:	n/a	n/a
39	CTCF	chr7:25220760-25220910	HEK293	kidney:	n/a	n/a
40	CTCF	chr7:25220740-25220890	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr7:25220740-25220890	AG09309	skin:	n/a	n/a
42	CTCF	chr7:25220740-25220890	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr7:25220740-25220890	GM12875	blood:	n/a	n/a
44	CTCF	chr7:25220720-25220870	HCT-116	colon:	n/a	n/a
45	CTCF	chr7:25220740-25220890	HPAF	blood vessel:	n/a	n/a
46	MAZ	chr7:25218903-25221116	IMR90	lung:	n/a	n/a
47	CTCF	chr7:25220706-25220900	K562	blood:	n/a	n/a
48	CTCF	chr7:25220720-25220870	GM12873	blood:	n/a	n/a
49	CTCF	chr7:25219262-25221015	A549	lung:	n/a	chr7:25220085-25220098 chr7:25220084-25220100 chr7:25220083-25220101 chr7:25219639-25219652
50	CTCF	chr7:25220692-25220917	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000234406	TF binding region
C7orf31	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25219400-25221000	Active TSS	Colon Smooth Muscle	Colon
2	chr7:25220200-25221000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr7:25220400-25222000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:25220600-25221000	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:25220600-25221000	Active TSS	Stomach Mucosa	stomach
6	chr7:25220600-25221400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:25220600-25221400	Enhancers	Spleen	Spleen
8	chr7:25220600-25233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:25220600-25233800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:25220800-25221000	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:25220800-25221200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:25220800-25221200	Enhancers	Fetal Kidney	kidney
13	chr7:25220800-25221200	Enhancers	K562	blood
14	chr7:25220800-25222000	Weak transcription	Brain Anterior Caudate	brain

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