Variant report

Variant	rs793417
Chromosome Location	chr15:58995437-58995438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11631244	1.00[CEU][hapmap]
rs11631334	0.81[AMR][1000 genomes]
rs11632492	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11638416	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11639208	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs16940571	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16940810	1.00[CEU][hapmap]
rs17190720	0.81[AMR][1000 genomes]
rs2555787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2657126	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347119	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347122	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs384322	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs387005	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs390390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415403	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs424346	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs437549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs602921	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6494025	1.00[CEU][hapmap]
rs73426525	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73426541	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-58996400	Weak transcription	NHLF	lung
2	chr15:58977200-58998200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:58977200-59004400	Weak transcription	Ovary	ovary
4	chr15:58977200-59007800	Weak transcription	HepG2	liver
5	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:58982400-59005000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:58982600-59008000	Weak transcription	Fetal Brain Male	brain
8	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
9	chr15:58985200-59005000	Weak transcription	HSMMtube	muscle
10	chr15:58985600-58995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:58986600-59016600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:58987400-59012000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:58987600-58995800	Weak transcription	Hela-S3	cervix
14	chr15:58987600-59005000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:58987600-59007800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:58989000-58997200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr15:58989400-58996000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:58989800-59016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:58990000-58996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:58990000-58996000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:58990000-58996200	Weak transcription	Right Atrium	heart
22	chr15:58990000-58997600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:58990000-58998400	Weak transcription	Gastric	stomach
24	chr15:58990000-58998400	Weak transcription	Right Ventricle	heart
25	chr15:58990000-58998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:58990000-59004800	Weak transcription	Pancreas	Pancrea
27	chr15:58990000-59005000	Weak transcription	Spleen	Spleen
28	chr15:58990000-59005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:58990200-58995800	Weak transcription	Left Ventricle	heart
31	chr15:58990200-58996000	Weak transcription	Lung	lung
32	chr15:58990800-58995800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:58991400-58996400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:58991600-58996800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:58991600-59005200	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:58991800-59005000	Weak transcription	Liver	Liver
37	chr15:58991800-59005000	Weak transcription	Fetal Kidney	kidney
38	chr15:58991800-59005000	Weak transcription	HMEC	breast
39	chr15:58991800-59012200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:58992000-58995800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:58992000-58996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:58992000-58996600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:58992000-59002600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:58992000-59005000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:58992000-59009000	Weak transcription	Placenta	Placenta
46	chr15:58992000-59010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:58992000-59015800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:58992000-59023000	Weak transcription	Esophagus	oesophagus
49	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
50	chr15:58992200-59004400	Weak transcription	Fetal Muscle Leg	muscle

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