Variant report

Variant	rs3825632
Chromosome Location	chr14:44974922-44974923
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:44974815-44975182	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:44974915-44975059	LNCaP	prostate:	n/a	n/a
3	CTCF	chr14:44974860-44975010	GM12873	blood:	n/a	n/a
4	CTCF	chr14:44974776-44975167	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:44974916-44975071	MCF-7	breast:	n/a	n/a
6	RAD21	chr14:44974790-44975136	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:44974798-44975064	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr14:44974806-44975157	HepG2	liver:	n/a	n/a
9	CTCF	chr14:44974874-44975172	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:44974919-44975036	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr14:44974915-44975096	HepG2	liver:	n/a	n/a
12	RAD21	chr14:44974715-44975167	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr14:44974849-44975102	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr14:44974807-44975160	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:44974908-44975076	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:44974920-44975070	MCF-7	breast:	n/a	n/a
17	RAD21	chr14:44974736-44975172	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr14:44974920-44975070	HepG2	liver:	n/a	n/a
19	CTCF	chr14:44974860-44975010	NB4	blood:	n/a	n/a
20	RAD21	chr14:44974818-44975118	HepG2	liver:	n/a	n/a
21	CTCF	chr14:44974859-44975084	HepG2	liver:	n/a	n/a
22	RAD21	chr14:44974825-44975107	HepG2	liver:	n/a	n/a
23	CTCF	chr14:44974840-44974990	HL-60	blood:	n/a	n/a
24	RAD21	chr14:44974768-44975198	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:44974860-44975010	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:44974878-44975104	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:44974900-44975050	MCF-7	breast:	n/a	n/a
28	RAD21	chr14:44974814-44975163	HepG2	liver:	n/a	n/a
29	CTCF	chr14:44974800-44974950	A549	lung:	n/a	n/a
30	CTCF	chr14:44974872-44975075	K562	blood:	n/a	n/a
31	RAD21	chr14:44974778-44975278	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:44974912-44975070	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:44974780-44975076	HepG2	liver:	n/a	n/a
34	CTCF	chr14:44974880-44975030	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:44838612..44839205-chr14:44974588..44975472,2	MCF-7	breast:
2	chr14:44972455..44975189-chr14:45002674..45004244,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258747	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10130880	0.97[ASN][1000 genomes]
rs10131133	0.96[ASN][1000 genomes]
rs10149521	0.95[ASN][1000 genomes]
rs12432475	0.96[ASN][1000 genomes]
rs1959390	0.96[ASN][1000 genomes]
rs1959391	0.96[ASN][1000 genomes]
rs2152497	0.96[ASN][1000 genomes]
rs28552670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28650295	0.99[ASN][1000 genomes]
rs371091	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs398277	0.87[ASN][1000 genomes]
rs402001	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs407761	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs443100	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62011216	0.90[ASN][1000 genomes]
rs62013253	0.99[ASN][1000 genomes]
rs71108655	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456254	chr14:44204571-44992259	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv564651	chr14:44204571-44992259	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1054134	chr14:44501865-45271806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542074	chr14:44501865-45271806	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv456262	chr14:44733804-45149546	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv564681	chr14:44733804-45149546	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1046622	chr14:44752381-45154325	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv542076	chr14:44752381-45154325	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv1042407	chr14:44759135-45157448	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv542077	chr14:44759135-45157448	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2753398	chr14:44795350-45207550	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv901831	chr14:44822128-44992259	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv901833	chr14:44931593-45028731	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv869391	chr14:44948825-45241392	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv456273	chr14:44950886-45006478	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv564694	chr14:44950886-45006478	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv977600	chr14:44958848-44992140	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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