Variant report

Variant	rs55831300
Chromosome Location	chr15:76478638-76478639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:76478032-76478985	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr15:76478095-76478710	SK-N-SH	brain:	n/a	chr15:76478417-76478427 chr15:76478417-76478427 chr15:76478417-76478427 chr15:76478604-76478612 chr15:76478418-76478426
3	CTCF	chr15:76478580-76478730	GM12865	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76478027..76479862-chr15:76483019..76485634,3	MCF-7	breast:
2	chr15:76467419..76469629-chr15:76476906..76478729,2	MCF-7	breast:
3	chr15:76478149..76479732-chr15:76481760..76484387,3	K562	blood:
4	chr15:76476723..76478991-chr15:76480313..76482582,2	K562	blood:

Variant related genes	Relation type
ENSG00000259422	TF binding region
ENSG00000169758	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11854285	0.81[EUR][1000 genomes]
rs11854972	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11856244	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11856470	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11857880	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469208	1.00[ASN][1000 genomes]
rs55862704	0.81[EUR][1000 genomes]
rs55923544	0.97[EUR][1000 genomes]
rs56110707	0.82[EUR][1000 genomes]
rs56220133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56233972	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56313024	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59691037	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60261704	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027004	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62027007	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027010	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027014	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027016	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027019	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027054	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62027059	0.86[AMR][1000 genomes]
rs62028361	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62030162	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62030163	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62030166	0.82[EUR][1000 genomes]
rs62030167	0.82[EUR][1000 genomes]
rs62030169	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62030170	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62030172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030184	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030187	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030191	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030230	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62030234	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030240	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495195	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495199	0.88[AFR][1000 genomes]
rs7167004	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7175022	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177769	0.81[AFR][1000 genomes]
rs72736846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736888	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72736892	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73448114	0.86[AMR][1000 genomes]
rs8042654	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1039595	chr15:76431374-76483342	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1045860	chr15:76431374-76485536	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv1053643	chr15:76431374-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv1052496	chr15:76432823-76484981	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1035806	chr15:76435640-76483342	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1047539	chr15:76435640-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1054289	chr15:76437970-76485966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1035389	chr15:76444695-76483342	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1041435	chr15:76444695-76484981	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv1046448	chr15:76444695-76485966	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv1046099	chr15:76444695-76490547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1054300	chr15:76445689-76483342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1044603	chr15:76445689-76484981	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1043026	chr15:76445689-76485966	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1040683	chr15:76454194-76483342	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	nsv1041619	chr15:76454194-76484981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1046485	chr15:76454194-76485536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1053572	chr15:76454194-76485966	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1049916	chr15:76454194-76490547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1046563	chr15:76460462-76483342	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
26	nsv1053775	chr15:76460462-76485966	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76443200-76483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:76470600-76482800	Weak transcription	A549	lung
3	chr15:76471400-76482400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:76474200-76479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:76476200-76482600	Weak transcription	Spleen	Spleen
6	chr15:76476400-76482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:76477000-76479600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:76477200-76480000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:76477200-76480000	Weak transcription	Fetal Brain Female	brain
10	chr15:76477400-76479600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:76477600-76478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:76477600-76479000	Enhancers	NHDF-Ad	bronchial
13	chr15:76477800-76478800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr15:76477800-76478800	Enhancers	HepG2	liver
15	chr15:76477800-76479000	Enhancers	NHLF	lung
16	chr15:76477800-76479200	Enhancers	Stomach Mucosa	stomach
17	chr15:76477800-76479800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:76478000-76478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:76478000-76478800	Enhancers	HMEC	breast
20	chr15:76478000-76478800	Enhancers	NH-A	brain
21	chr15:76478000-76479000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:76478000-76479200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:76478000-76479800	Enhancers	Psoas Muscle	Psoas
24	chr15:76478200-76478800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:76478200-76478800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:76478200-76478800	Enhancers	Hela-S3	cervix
27	chr15:76478200-76478800	Enhancers	HUVEC	blood vessel
28	chr15:76478200-76478800	Enhancers	NHEK	skin
29	chr15:76478200-76479000	Enhancers	HSMM	muscle
30	chr15:76478200-76480000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr15:76478200-76480200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:76478200-76488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:76478400-76478800	Enhancers	Osteobl	bone
34	chr15:76478600-76478800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:76478600-76478800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr15:76478600-76479200	Weak transcription	HSMMtube	muscle
37	chr15:76478600-76479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:76478600-76482200	Weak transcription	Placenta	Placenta
39	chr15:76478600-76482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:76478600-76482600	Weak transcription	Pancreas	Pancrea
41	chr15:76478600-76482800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:76478600-76487800	Weak transcription	Right Atrium	heart

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