Variant report

Variant	rs1423783
Chromosome Location	chr16:65215103-65215104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:65215020-65215170	BJ	skin:	n/a	n/a
2	CTCF	chr16:65215040-65215190	HCPEpiC	choroid plexus:	n/a	n/a
3	RAD21	chr16:65214981-65215203	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr16:65215073-65215138	Lung_OC	lung:	n/a	n/a
5	CTCF	chr16:65215080-65215230	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr16:65215060-65215210	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr16:65215020-65215170	AG04449	skin:	n/a	n/a
8	CTCF	chr16:65215040-65215190	HPF	lung:	n/a	n/a
9	CTCF	chr16:65214960-65215110	HFF	foreskin:	n/a	n/a
10	RAD21	chr16:65214893-65215204	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr16:65215060-65215210	Caco-2	colon:	n/a	n/a
12	CTCF	chr16:65215060-65215210	HVMF	connective:	n/a	n/a
13	CTCF	chr16:65215000-65215150	HMF	breast:	n/a	n/a
14	CTCF	chr16:65215040-65215190	AG09319	gingival:	n/a	n/a
15	CTCF	chr16:65214980-65215130	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr16:65215080-65215230	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr16:65215000-65215150	AG04450	lung:	n/a	n/a
18	CTCF	chr16:65215000-65215150	HPF	lung:	n/a	n/a
19	CTCF	chr16:65215040-65215190	BJ	skin:	n/a	n/a
20	CTCF	chr16:65215000-65215150	AG04449	skin:	n/a	n/a
21	CTCF	chr16:65215100-65215250	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr16:65214980-65215130	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr16:65215000-65215150	AG09319	gingival:	n/a	n/a
24	CTCF	chr16:65215040-65215190	HMF	breast:	n/a	n/a
25	CTCF	chr16:65215040-65215190	AG10803	skin:	n/a	n/a
26	CTCF	chr16:65215069-65215127	ProgFib	skin:	n/a	n/a
27	CTCF	chr16:65214960-65215110	NHLF	lung:	n/a	n/a
28	CTCF	chr16:65215060-65215210	HAc	cerebellar:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000259847	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16968653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7498642	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv431508	chr16:65211408-65223172	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
4	nsv431509	chr16:65211408-65302840	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv431510	chr16:65213149-65223172	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv431511	chr16:65213149-65252673	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv431512	chr16:65213406-65234631	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65210000-65215600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:65211000-65215800	Weak transcription	Fetal Kidney	kidney
3	chr16:65212000-65215600	Weak transcription	HSMM	muscle
4	chr16:65212400-65215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:65212600-65215800	Weak transcription	NHDF-Ad	bronchial
6	chr16:65214600-65215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:65214600-65215800	Enhancers	Adipose Nuclei	Adipose
8	chr16:65214600-65216400	Enhancers	Fetal Muscle Leg	muscle
9	chr16:65214600-65216400	Enhancers	Ovary	ovary
10	chr16:65214800-65215200	Enhancers	Brain Substantia Nigra	brain
11	chr16:65214800-65215800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:65214800-65216000	Enhancers	HSMMtube	muscle
13	chr16:65215000-65215400	Active TSS	Fetal Lung	lung
14	chr16:65215000-65215600	Enhancers	Osteobl	bone
15	chr16:65215000-65219000	Weak transcription	Fetal Stomach	stomach
16	chr16:65215000-65219200	Weak transcription	Brain Angular Gyrus	brain

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