Variant report

Variant	rs74017286
Chromosome Location	chr15:58987248-58987249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58985652..58987532-chr15:59040716..59043625,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs16940570	1.00[EUR][1000 genomes]
rs16940574	1.00[EUR][1000 genomes]
rs16940584	1.00[EUR][1000 genomes]
rs16940586	1.00[EUR][1000 genomes]
rs16940602	1.00[EUR][1000 genomes]
rs16940614	1.00[EUR][1000 genomes]
rs16940638	1.00[EUR][1000 genomes]
rs16940723	1.00[EUR][1000 genomes]
rs16940751	1.00[EUR][1000 genomes]
rs16940766	1.00[EUR][1000 genomes]
rs16940768	1.00[EUR][1000 genomes]
rs16940771	1.00[EUR][1000 genomes]
rs2414609	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	1.00[EUR][1000 genomes]
rs56039925	1.00[EUR][1000 genomes]
rs56357958	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56935364	1.00[EUR][1000 genomes]
rs56942476	1.00[EUR][1000 genomes]
rs57083702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57845422	1.00[EUR][1000 genomes]
rs58937576	1.00[EUR][1000 genomes]
rs61678411	1.00[EUR][1000 genomes]
rs6494024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163948	1.00[EUR][1000 genomes]
rs7164104	1.00[EUR][1000 genomes]
rs7166901	1.00[EUR][1000 genomes]
rs7167240	1.00[EUR][1000 genomes]
rs7168066	1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	1.00[EUR][1000 genomes]
rs7174279	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	1.00[EUR][1000 genomes]
rs7176715	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016920	1.00[EUR][1000 genomes]
rs74016943	1.00[EUR][1000 genomes]
rs74016946	1.00[EUR][1000 genomes]
rs74016947	1.00[EUR][1000 genomes]
rs74017259	1.00[EUR][1000 genomes]
rs74017261	1.00[EUR][1000 genomes]
rs74017264	1.00[EUR][1000 genomes]
rs74017265	1.00[EUR][1000 genomes]
rs74017270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017293	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017296	1.00[EUR][1000 genomes]
rs74017297	1.00[EUR][1000 genomes]
rs74017298	1.00[EUR][1000 genomes]
rs74017300	1.00[EUR][1000 genomes]
rs74017301	1.00[EUR][1000 genomes]
rs74018920	1.00[EUR][1000 genomes]
rs8025475	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8027618	1.00[EUR][1000 genomes]
rs8028872	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8029869	1.00[EUR][1000 genomes]
rs8031250	1.00[EUR][1000 genomes]
rs8031412	1.00[EUR][1000 genomes]
rs8032451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8043275	1.00[EUR][1000 genomes]
rs881117	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv974583	chr15:58979010-58987450	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58936200-58991400	Weak transcription	HMEC	breast
2	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:58956600-58987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:58957600-58989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:58958800-58989000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:58960400-58989600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:58972600-58988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:58972600-58988800	Weak transcription	Fetal Stomach	stomach
9	chr15:58972600-58989000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:58974600-58991000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:58975800-58989200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:58977000-58988600	Weak transcription	Fetal Intestine Small	intestine
13	chr15:58977000-58989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:58977200-58989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:58977200-58989200	Weak transcription	Pancreas	Pancrea
16	chr15:58977200-58989400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:58977200-58996400	Weak transcription	NHLF	lung
18	chr15:58977200-58998200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:58977200-59004400	Weak transcription	Ovary	ovary
20	chr15:58977200-59007800	Weak transcription	HepG2	liver
21	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:58978800-58989200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:58980400-58989800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:58982400-58991400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:58982400-59005000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:58982600-58990000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:58982600-59008000	Weak transcription	Fetal Brain Male	brain
28	chr15:58983000-58989800	Weak transcription	Fetal Brain Female	brain
29	chr15:58983200-58989200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
31	chr15:58983600-58988800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:58983600-58989000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:58983800-58991600	Weak transcription	Esophagus	oesophagus
34	chr15:58983800-58991800	Weak transcription	Aorta	Aorta
35	chr15:58984600-58988000	Weak transcription	Lung	lung
36	chr15:58985000-58988600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:58985000-58991400	Weak transcription	Liver	Liver
38	chr15:58985200-58988000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:58985200-58989000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:58985200-58989200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:58985200-58990000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr15:58985200-58990200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:58985200-58991200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:58985200-59005000	Weak transcription	HSMMtube	muscle
45	chr15:58985400-58988600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:58985400-58988800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr15:58985400-58989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:58985400-58989000	Weak transcription	Right Ventricle	heart
49	chr15:58985400-58989000	Weak transcription	Thymus	Thymus
50	chr15:58985400-58989200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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