Variant report

Variant	rs62455751
Chromosome Location	chr7:55757764-55757765
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:55756617-55757854	PFSK-1	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55757733-55757783	T-47D	breast:	n/a
2	chr7:55757733-55757783	SK-N-SH_RA	brain:	n/a
3	chr7:55757733-55757783	NHBE	bronchial:	n/a
4	chr7:55757733-55757783	AG09309	skin:	n/a
5	chr7:55757733-55757783	GM12878	blood:	n/a
6	chr7:55757733-55757783	AG04450	lung:	fetal
7	chr7:55757733-55757783	GM19239	blood:	n/a
8	chr7:55757733-55757783	HRE	kidney:	n/a
9	chr7:55757733-55757783	ovcar-3	ovarian:	n/a
10	chr7:55757733-55757783	HEK293	kidney:	embryo
11	chr7:55757733-55757783	AoSMC	blood vessel:	n/a
12	chr7:55757733-55757783	AG04449	skin:	fetal
13	chr7:55757733-55757783	Hepatocyte	liver:	n/a
14	chr7:55757733-55757783	HCM	heart:	n/a
15	chr7:55757733-55757783	PANC-1	pancreas:	n/a
16	chr7:55757733-55757783	A549	lung:	n/a
17	chr7:55757733-55757783	NH-A	brain:	n/a
18	chr7:55757733-55757783	SKMC	muscle:	n/a
19	chr7:55757733-55757783	HEEpiC	esophagus:	n/a
20	chr7:55757733-55757783	Caco-2	colon:	n/a
21	chr7:55757733-55757783	HAEpiC	amniotic membrane:	n/a
22	chr7:55757733-55757783	NB4	blood:	n/a
23	chr7:55757733-55757783	SK-N-MC	brain:	n/a
24	chr7:55757733-55757783	NT2-D1	testis:	n/a
25	chr7:55757733-55757783	HRCEpiC	kidney:	n/a
26	chr7:55757733-55757783	BE2_C	brain:	n/a
27	chr7:55757733-55757783	ECC-1	luminal epithelium:	n/a
28	chr7:55757733-55757783	HepG2	liver:	n/a
29	chr7:55757733-55757783	U87	brain:	n/a
30	chr7:55757733-55757783	HUVEC	blood vessel:	n/a
31	chr7:55757733-55757783	HNPCEpiC	eye:	n/a
32	chr7:55757733-55757783	ProgFib	skin:	n/a
33	chr7:55757733-55757783	HCF	heart:	n/a
34	chr7:55757733-55757783	K562	blood:	n/a
35	chr7:55757733-55757783	SK-N-SH	brain:	n/a
36	chr7:55757733-55757783	HL-60	blood:	n/a
37	chr7:55757733-55757783	GM12892	blood:	n/a
38	chr7:55757733-55757783	HMEC	breast:	n/a
39	chr7:55757733-55757783	GM12891	blood:	n/a
40	chr7:55757733-55757783	AG09319	gingival:	n/a
41	chr7:55757733-55757783	MCF-7	breast:	n/a
42	chr7:55757733-55757783	HRPEpiC	eye:	n/a
43	chr7:55757733-55757783	H1-hESC	embryonic stem cell:	embryo
44	chr7:55757733-55757783	Hela-S3	cervix:	n/a
45	chr7:55757733-55757783	Jurkat	blood:	n/a
46	chr7:55757733-55757783	HIPEpiC	eye:	n/a
47	chr7:55757733-55757783	HCT-116	colon:	n/a
48	chr7:55757733-55757783	CMK	blood:	n/a
49	chr7:55757733-55757783	HCPEpiC	choroid plexus:	n/a
50	chr7:55757733-55757783	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
FKBP9L	TF binding region
FKBP9L	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs62455742	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62455748	0.89[EUR][1000 genomes]
rs62455750	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455752	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62455754	1.00[AFR][1000 genomes]
rs62455756	1.00[AFR][1000 genomes]
rs62455757	1.00[AFR][1000 genomes]
rs62455758	1.00[AFR][1000 genomes]
rs62455759	1.00[AFR][1000 genomes]
rs62456560	1.00[AFR][1000 genomes]
rs62456562	1.00[AFR][1000 genomes]
rs62456563	1.00[AFR][1000 genomes]
rs62456609	1.00[AFR][1000 genomes]
rs6701	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv469822	chr7:55630280-55792932	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482409	chr7:55630280-55792932	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv888063	chr7:55728476-55899496	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv469612	chr7:55752394-55876163	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv482609	chr7:55752394-55876163	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55754600-55757800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:55756000-55757800	Enhancers	Stomach Mucosa	stomach
3	chr7:55756000-55757800	Enhancers	NHEK	skin
4	chr7:55756400-55757800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:55756400-55757800	Enhancers	Colon Smooth Muscle	Colon
6	chr7:55756600-55757800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:55756600-55757800	Enhancers	Fetal Kidney	kidney
8	chr7:55756600-55757800	Enhancers	HepG2	liver
9	chr7:55756800-55757800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:55756800-55757800	Enhancers	Fetal Stomach	stomach
11	chr7:55757000-55761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:55757000-55766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:55757200-55762600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:55757200-55764200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:55757400-55761800	Weak transcription	HMEC	breast
16	chr7:55757400-55762600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:55757400-55762600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:55757400-55762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:55757600-55758000	Weak transcription	Pancreas	Pancrea
20	chr7:55757600-55760800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:55757600-55763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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