Variant report

Variant	rs8031412
Chromosome Location	chr15:58919525-58919526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58915714..58920888-chr15:58922126..58927407,8	K562	blood:
2	chr15:58915714..58921238-chr15:58922986..58925558,6	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs16940570	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	0.95[YRI][hapmap];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	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	0.90[YRI][hapmap];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	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2013878	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs2414609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357958	0.85[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	0.94[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	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7163948	1.00[EUR][1000 genomes]
rs7164104	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	1.00[YRI][hapmap];0.98[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	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183811	1.00[AMR][1000 genomes]
rs74016920	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	0.95[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	0.80[AFR][1000 genomes];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]
rs74021013	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	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033613	0.87[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: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	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
4	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
5	nsv569602	chr15:58914326-58964437	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58880600-58920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:58888400-58920000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:58889600-58919800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:58889800-58921000	Weak transcription	Ovary	ovary
5	chr15:58891400-58959600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:58899200-58920200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:58905000-58920800	Weak transcription	Left Ventricle	heart
8	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
9	chr15:58905400-58919600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
11	chr15:58905600-58919800	Weak transcription	Stomach Mucosa	stomach
12	chr15:58905600-58976400	Weak transcription	Gastric	stomach
13	chr15:58906400-58920000	Weak transcription	Colonic Mucosa	Colon
14	chr15:58906400-58923000	Weak transcription	Pancreas	Pancrea
15	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
16	chr15:58907200-58920000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:58907200-58920600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:58907200-58920800	Weak transcription	NH-A	brain
19	chr15:58907400-58920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:58907800-58952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:58908000-58923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:58908600-58920000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:58909000-58920800	Weak transcription	Hela-S3	cervix
24	chr15:58910400-58923200	Weak transcription	Lung	lung
25	chr15:58910400-58934000	Weak transcription	Psoas Muscle	Psoas
26	chr15:58910800-58926200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:58911600-58951200	Weak transcription	Fetal Brain Male	brain
28	chr15:58911600-58958000	Weak transcription	Fetal Brain Female	brain
29	chr15:58911800-58919600	Weak transcription	Adipose Nuclei	Adipose
30	chr15:58911800-58920200	Weak transcription	Fetal Heart	heart
31	chr15:58912000-58920000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr15:58912600-58920800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:58912600-58922800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:58912800-58920200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:58914000-58919800	Weak transcription	Brain Angular Gyrus	brain
36	chr15:58914200-58919600	Weak transcription	Brain Anterior Caudate	brain
37	chr15:58914200-58957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:58914600-58957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:58915600-58920800	Weak transcription	Right Ventricle	heart
40	chr15:58915800-58920600	Weak transcription	HSMMtube	muscle
41	chr15:58916800-58920200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:58916800-58920400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:58916800-58920400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:58917000-58920200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:58917000-58923000	Weak transcription	Fetal Stomach	stomach
46	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:58917200-58919800	Strong transcription	Fetal Lung	lung
48	chr15:58917200-58920000	Weak transcription	Fetal Intestine Small	intestine
49	chr15:58917200-58920200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr15:58917400-58919600	Strong transcription	HSMM	muscle

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