Variant report

Variant	rs11629125
Chromosome Location	chr14:44976241-44976242
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	STAT3	chr14:44976194-44976312	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:44976233-44976283	HCF	heart:	n/a
2	chr14:44976233-44976283	HRCEpiC	kidney:	n/a
3	chr14:44976233-44976283	GM06990	blood:	n/a
4	chr14:44976233-44976283	ovcar-3	ovarian:	n/a
5	chr14:44976233-44976283	HL-60	blood:	n/a
6	chr14:44976233-44976283	SKMC	muscle:	n/a
7	chr14:44976233-44976283	HCT-116	colon:	n/a
8	chr14:44976233-44976283	PANC-1	pancreas:	n/a
9	chr14:44976233-44976283	H1-hESC	embryonic stem cell:	embryo
10	chr14:44976233-44976283	HEK293	kidney:	embryo
11	chr14:44976233-44976283	HUVEC	blood vessel:	n/a
12	chr14:44976233-44976283	Hela-S3	cervix:	n/a
13	chr14:44976233-44976283	HNPCEpiC	eye:	n/a
14	chr14:44976233-44976283	AG09319	gingival:	n/a
15	chr14:44976233-44976283	NHBE	bronchial:	n/a
16	chr14:44976233-44976283	GM12891	blood:	n/a
17	chr14:44976233-44976283	SK-N-SH	brain:	n/a
18	chr14:44976233-44976283	GM12878	blood:	n/a
19	chr14:44976233-44976283	NB4	blood:	n/a
20	chr14:44976233-44976283	Caco-2	colon:	n/a
21	chr14:44976233-44976283	HIPEpiC	eye:	n/a
22	chr14:44976233-44976283	A549	lung:	n/a
23	chr14:44976233-44976283	HAEpiC	amniotic membrane:	n/a
24	chr14:44976233-44976283	HMEC	breast:	n/a
25	chr14:44976233-44976283	PrEC	prostate:	n/a
26	chr14:44976233-44976283	CMK	blood:	n/a
27	chr14:44976233-44976283	ECC-1	luminal epithelium:	n/a
28	chr14:44976233-44976283	T-47D	breast:	n/a
29	chr14:44976233-44976283	HepG2	liver:	n/a
30	chr14:44976233-44976283	BJ	skin:	n/a
31	chr14:44976233-44976283	HCPEpiC	choroid plexus:	n/a
32	chr14:44976233-44976283	SK-N-MC	brain:	n/a
33	chr14:44976233-44976283	SAEC	small airway:	n/a
34	chr14:44976233-44976283	PFSK-1	brain:	n/a
35	chr14:44976233-44976283	HEEpiC	esophagus:	n/a
36	chr14:44976233-44976283	GM19239	blood:	n/a
37	chr14:44976233-44976283	SK-N-SH_RA	brain:	n/a
38	chr14:44976233-44976283	MCF-7	breast:	n/a
39	chr14:44976233-44976283	U87	brain:	n/a
40	chr14:44976233-44976283	Hepatocyte	liver:	n/a
41	chr14:44976233-44976283	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:44976233-44976283	ProgFib	skin:	n/a
43	chr14:44976233-44976283	RPTEC	kidney:	n/a
44	chr14:44976233-44976283	MCF10A-Er-Src	breast:	n/a
45	chr14:44976233-44976283	HCM	heart:	n/a
46	chr14:44976233-44976283	NT2-D1	testis:	n/a
47	chr14:44976233-44976283	BE2_C	brain:	n/a
48	chr14:44976233-44976283	HRE	kidney:	n/a
49	chr14:44976233-44976283	AG04450	lung:	fetal
50	chr14:44976233-44976283	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000258747	TF binding region
ENSG00000258747	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11157406	0.81[EUR][1000 genomes]
rs11623175	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624805	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11624829	0.90[EUR][1000 genomes]
rs11625744	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12147380	0.92[EUR][1000 genomes]
rs12892376	0.81[EUR][1000 genomes]
rs12896542	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115043	0.92[EUR][1000 genomes]
rs1958503	0.92[EUR][1000 genomes]
rs1958504	0.92[EUR][1000 genomes]
rs35315164	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35633851	0.92[EUR][1000 genomes]
rs415373	0.92[EUR][1000 genomes]
rs56934755	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66517303	0.83[EUR][1000 genomes]
rs71412955	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7156241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017310	0.92[EUR][1000 genomes]
rs9943998	0.92[EUR][1000 genomes]
rs9944143	0.92[EUR][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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