Variant report

Variant	rs62011483
Chromosome Location	chr15:78326600-78326601
allele	C/T
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	MAX	chr15:78326243-78328842	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
2	POLR2A	chr15:78326599-78328151	HL-60	blood:	n/a	n/a
3	MTA3	chr15:78326588-78327904	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:78326228-78327424	GM12878	blood:	n/a	n/a
5	MYC	chr15:78326363-78328390	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
6	EBF1	chr15:78326577-78327607	GM12878	blood:	n/a	n/a
7	PAX5	chr15:78326590-78327224	GM12878	blood:	n/a	chr15:78326876-78326885
8	CTCF	chr15:78326600-78326750	GM06990	blood:	n/a	n/a
9	PAX5	chr15:78326563-78327173	GM12878	blood:	n/a	chr15:78326876-78326885
10	STAT3	chr15:78326431-78326625	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78324962..78326777-chr15:78328172..78330506,2	K562	blood:
2	chr15:78316593..78318301-chr15:78325230..78327310,2	MCF-7	breast:
3	chr15:78326298..78328930-chr15:78337722..78339392,2	MCF-7	breast:

Variant related genes	Relation type
MIR1827	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11630013	1.00[ASN][1000 genomes]
rs11635115	1.00[ASN][1000 genomes]
rs11635268	1.00[ASN][1000 genomes]
rs16969502	1.00[ASN][1000 genomes]
rs17398057	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399424	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34057735	1.00[ASN][1000 genomes]
rs4438275	1.00[ASN][1000 genomes]
rs4887008	1.00[ASN][1000 genomes]
rs55829894	1.00[ASN][1000 genomes]
rs55914317	1.00[ASN][1000 genomes]
rs57778149	1.00[ASN][1000 genomes]
rs59075488	1.00[ASN][1000 genomes]
rs60790001	1.00[ASN][1000 genomes]
rs62008166	1.00[ASN][1000 genomes]
rs62008596	1.00[ASN][1000 genomes]
rs62011472	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62011473	0.82[AMR][1000 genomes]
rs62011474	0.82[AMR][1000 genomes]
rs62011475	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011516	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62011518	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011519	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62011521	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163268	1.00[ASN][1000 genomes]
rs7163579	1.00[ASN][1000 genomes]
rs7165474	1.00[ASN][1000 genomes]
rs7182599	1.00[ASN][1000 genomes]
rs7183671	1.00[ASN][1000 genomes]
rs74024166	1.00[ASN][1000 genomes]
rs74024170	1.00[ASN][1000 genomes]
rs8028842	1.00[ASN][1000 genomes]
rs894298	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78301400-78342200	Weak transcription	HMEC	breast
3	chr15:78303200-78342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:78305400-78329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78307200-78342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:78308800-78327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:78309200-78330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:78309200-78330800	Weak transcription	A549	lung
9	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:78311800-78326800	Weak transcription	K562	blood
11	chr15:78313000-78327600	Weak transcription	Fetal Brain Male	brain
12	chr15:78316000-78332400	Weak transcription	Hela-S3	cervix
13	chr15:78317000-78327800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:78317600-78326800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:78317600-78327000	Weak transcription	NH-A	brain
18	chr15:78317600-78327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:78317800-78326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:78317800-78326600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:78317800-78326600	Weak transcription	Spleen	Spleen
22	chr15:78317800-78331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:78318400-78326800	Weak transcription	HepG2	liver
26	chr15:78318800-78326600	Weak transcription	Stomach Mucosa	stomach
27	chr15:78319600-78326600	Weak transcription	Colonic Mucosa	Colon
28	chr15:78320200-78327600	Weak transcription	Fetal Brain Female	brain
29	chr15:78320200-78334400	Weak transcription	Aorta	Aorta
30	chr15:78320400-78326600	Weak transcription	Pancreas	Pancrea
31	chr15:78320400-78326800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:78320400-78331800	Weak transcription	Esophagus	oesophagus
33	chr15:78320600-78326600	Weak transcription	Left Ventricle	heart
34	chr15:78321000-78326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:78321000-78326800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:78321200-78326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:78321200-78343800	Weak transcription	NHEK	skin
38	chr15:78321400-78326600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:78321600-78327000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:78322000-78326600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:78322200-78336600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:78322200-78341000	Weak transcription	Brain Germinal Matrix	brain
43	chr15:78322400-78326600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:78322400-78326600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:78322400-78327200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:78322400-78336600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:78322600-78326600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:78323000-78326800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:78323000-78326800	Weak transcription	Lung	lung
50	chr15:78323200-78327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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