Variant report

Variant	rs74016943
Chromosome Location	chr15:58882944-58882945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58881464..58883057-chr15:58883104..58885208,2	MCF-7	breast:
2	chr15:58881400..58884258-chr15:58884787..58887600,3	K562	blood:
3	chr15:58882865..58883784-chr20:37590021..37590875,2	Hela-S3	cervix:
4	chr15:58881180..58883026-chr15:58886491..58889151,2	K562	blood:
5	chr15:58882813..58884971-chr15:58890558..58893120,2	K562	blood:
6	chr15:58877835..58880845-chr15:58881709..58886706,5	K562	blood:

Variant related genes	Relation type
ENSG00000261431	Chromatin interaction
ENSG00000259250	Chromatin interaction
ENSG00000239100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:64)

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]
rs74016946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	1.00[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]
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:2 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58874600-58889200	Weak transcription	Small Intestine	intestine
2	chr15:58877600-58888200	Weak transcription	Placenta	Placenta
3	chr15:58877600-58888800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:58877800-58888400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:58877800-58889000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:58878000-58885600	Weak transcription	Left Ventricle	heart
7	chr15:58878000-58885800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:58878000-58885800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:58878000-58886200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:58878000-58886200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:58878000-58887600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr15:58878000-58887800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:58878000-58898400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:58878000-58900000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:58878000-58900000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:58878200-58885600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:58878200-58885800	Weak transcription	Primary B cells from cord blood	blood
18	chr15:58878200-58886000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:58878200-58889200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:58878200-58890800	Weak transcription	Spleen	Spleen
21	chr15:58878400-58883000	Weak transcription	Fetal Kidney	kidney
22	chr15:58878400-58885400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:58878400-58887400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:58878400-58887600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:58878400-58888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:58878400-58890600	Weak transcription	Primary T cells from cord blood	blood
27	chr15:58878400-58897800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:58878400-58900200	Weak transcription	Brain Substantia Nigra	brain
29	chr15:58878600-58884200	Weak transcription	HSMMtube	muscle
30	chr15:58878600-58886200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:58878600-58888200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:58878600-58889000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr15:58878600-58889000	Weak transcription	K562	blood
34	chr15:58878600-58890600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:58878600-58900200	Weak transcription	NHLF	lung
36	chr15:58878800-58889200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:58878800-58904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:58879200-58885600	Weak transcription	Dnd41	blood
39	chr15:58879200-58893800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:58880000-58884000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:58880000-58885600	Weak transcription	GM12878-XiMat	blood
42	chr15:58880200-58904600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:58880400-58888800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:58880600-58920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:58880800-58885600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:58881400-58883200	Enhancers	Fetal Heart	heart
47	chr15:58881400-58883400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:58881600-58883200	Weak transcription	HSMM	muscle
49	chr15:58881600-58885800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:58881800-58885600	Weak transcription	Thymus	Thymus

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