Variant report

Variant	rs74017296
Chromosome Location	chr15:59025080-59025081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59024558..59027557-chr15:59042098..59043745,2	K562	blood:
2	chr15:59025073..59028168-chr15:59040901..59043745,3	K562	blood:
3	chr15:59023017..59026002-chr15:59026211..59028184,2	K562	blood:

Variant related genes	Relation type
ENSG00000137845	Chromatin interaction

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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940638	1.00[EUR][1000 genomes]
rs16940723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16940751	0.86[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs2414609	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4277293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56935364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56942476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083702	1.00[EUR][1000 genomes]
rs57845422	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58667875	0.91[AFR][1000 genomes];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[EUR][1000 genomes]
rs7163948	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7164104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168066	1.00[EUR][1000 genomes]
rs7172673	1.00[EUR][1000 genomes]
rs7173048	1.00[EUR][1000 genomes]
rs7174279	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176715	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183811	1.00[AMR][1000 genomes]
rs74016920	1.00[EUR][1000 genomes]
rs74016943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017270	1.00[EUR][1000 genomes]
rs74017281	1.00[EUR][1000 genomes]
rs74017286	1.00[EUR][1000 genomes]
rs74017293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017301	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74017302	0.98[AFR][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	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032451	1.00[EUR][1000 genomes]
rs8033613	1.00[EUR][1000 genomes]
rs8043275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs881117	0.93[AFR][1000 genomes];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	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
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:59010800-59031200	Weak transcription	Dnd41	blood
8	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
11	chr15:59017200-59027400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:59017200-59034400	Weak transcription	Fetal Kidney	kidney
13	chr15:59017400-59029000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:59021000-59025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr15:59021600-59025600	Enhancers	Left Ventricle	heart
16	chr15:59021600-59025800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:59021800-59029000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:59021800-59029600	Weak transcription	Fetal Lung	lung
19	chr15:59022000-59025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:59022000-59029600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:59022200-59025800	Enhancers	Brain Cingulate Gyrus	brain
22	chr15:59022200-59025800	Enhancers	HSMMtube	muscle
23	chr15:59022200-59040200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:59022400-59025600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:59022400-59025800	Enhancers	Brain Angular Gyrus	brain
26	chr15:59022400-59025800	Enhancers	Brain Hippocampus Middle	brain
27	chr15:59022400-59026800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:59022400-59029400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:59022600-59025600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:59022600-59034800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:59022600-59038600	Weak transcription	Fetal Brain Female	brain
32	chr15:59022800-59025200	Genic enhancers	Fetal Thymus	thymus
33	chr15:59022800-59025200	Enhancers	HMEC	breast
34	chr15:59022800-59025800	Genic enhancers	Thymus	Thymus
35	chr15:59022800-59029600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:59023000-59026000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:59023000-59027000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:59023000-59030400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr15:59023200-59025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:59023200-59025600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:59023400-59025600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:59023400-59025800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:59023600-59025400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:59023600-59025600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:59023600-59025600	Enhancers	Esophagus	oesophagus
46	chr15:59023600-59025600	Enhancers	Placenta	Placenta
47	chr15:59023600-59025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:59023600-59026000	Enhancers	Stomach Mucosa	stomach
49	chr15:59023600-59027000	Weak transcription	Fetal Intestine Small	intestine
50	chr15:59023600-59027200	Enhancers	NHEK	skin

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