Variant report

Variant	rs74016947
Chromosome Location	chr15:58895390-58895391
allele	A/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	MAFF	chr15:58895040-58895390	HepG2	liver:	n/a	chr15:58895208-58895226
2	MAFK	chr15:58895040-58895398	IMR90	lung:	n/a	chr15:58895210-58895225
3	MAFK	chr15:58895200-58895400	H1-hESC	embryonic stem cell:	n/a	chr15:58895210-58895225
4	MAFK	chr15:58895039-58895402	HepG2	liver:	n/a	chr15:58895210-58895225

No.	Distal block	Cell Line	Cell type
1	chr15:58888706..58891622-chr15:58895276..58897701,2	MCF-7	breast:
2	chr15:58895066..58897354-chr15:59040253..59042004,2	MCF-7	breast:
3	chr15:58894443..58897022-chr15:58897229..58899718,3	K562	blood:

Variant related genes	Relation type
ENSG00000239100	TF binding region
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs16940570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940638	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16940723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	1.00[EUR][1000 genomes]
rs16940766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16953381	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2013878	0.87[AFR][1000 genomes]
rs2414609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56942476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57845422	1.00[EUR][1000 genomes]
rs58667875	1.00[AMR][1000 genomes]
rs58937576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61678411	1.00[EUR][1000 genomes]
rs6494024	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7163948	1.00[EUR][1000 genomes]
rs7164104	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168066	1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7174279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016920	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017259	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017261	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017264	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017270	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017281	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017286	1.00[EUR][1000 genomes]
rs74017293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017301	1.00[EUR][1000 genomes]
rs74018920	1.00[EUR][1000 genomes]
rs74021007	1.00[AMR][1000 genomes]
rs8025475	1.00[EUR][1000 genomes]
rs8027618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033613	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8043275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs881117	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1551	chr15:58891639-58936580	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58878000-58898400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:58878000-58900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:58878000-58900000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:58878400-58897800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:58878400-58900200	Weak transcription	Brain Substantia Nigra	brain
6	chr15:58878600-58900200	Weak transcription	NHLF	lung
7	chr15:58878800-58904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:58880200-58904600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:58880600-58920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:58882600-58904000	Weak transcription	Gastric	stomach
11	chr15:58882600-58907600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:58883000-58901800	Weak transcription	HUVEC	blood vessel
13	chr15:58883200-58900400	Weak transcription	Fetal Heart	heart
14	chr15:58883200-58904600	Strong transcription	HSMM	muscle
15	chr15:58883400-58900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:58883800-58896600	Weak transcription	HepG2	liver
17	chr15:58884000-58895400	Strong transcription	Fetal Thymus	thymus
18	chr15:58884400-58896200	Weak transcription	Lung	lung
19	chr15:58884400-58902600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:58884600-58895600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:58885200-58897000	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:58885600-58897400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:58885800-58896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:58885800-58906800	Weak transcription	Fetal Brain Male	brain
25	chr15:58886400-58899800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:58887200-58906600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:58887400-58898200	Weak transcription	Brain Angular Gyrus	brain
28	chr15:58887600-58897600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:58887800-58905200	Weak transcription	Brain Germinal Matrix	brain
30	chr15:58888000-58906200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:58888400-58900400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:58888400-58920000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:58888600-58899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:58889000-58900200	Weak transcription	Right Ventricle	heart
35	chr15:58889200-58900400	Weak transcription	NH-A	brain
36	chr15:58889600-58895400	Weak transcription	K562	blood
37	chr15:58889600-58902000	Weak transcription	HMEC	breast
38	chr15:58889600-58904600	Weak transcription	Colonic Mucosa	Colon
39	chr15:58889600-58905200	Weak transcription	Fetal Brain Female	brain
40	chr15:58889600-58919800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:58889800-58895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:58889800-58895600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:58889800-58896600	Weak transcription	Adipose Nuclei	Adipose
44	chr15:58889800-58899200	Weak transcription	Hela-S3	cervix
45	chr15:58889800-58901400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:58889800-58918800	Weak transcription	Osteobl	bone
47	chr15:58889800-58921000	Weak transcription	Ovary	ovary
48	chr15:58890000-58901400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:58890000-58904400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:58890000-58906200	Weak transcription	Small Intestine	intestine

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