Variant report

Variant	rs62017165
Chromosome Location	chr15:50868541-50868542
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50866589..50868103-chr15:50868342..50870495,2	K562	blood:
2	chr15:50867388..50869846-chr15:50878063..50879633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10519279	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10519283	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1060599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070803	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070806	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11631085	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11632292	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11636894	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12438769	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12438850	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12439211	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12439783	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12440876	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12913959	0.83[EUR][1000 genomes]
rs17520350	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17520448	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17598264	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17598819	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1966061	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1986073	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2011049	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28859882	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3848127	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775892	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62017164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62017169	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62017170	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62017171	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62017192	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62017196	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017199	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017202	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62017207	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017208	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017209	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017211	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62017244	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62017245	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62019118	0.83[EUR][1000 genomes]
rs62019121	0.85[EUR][1000 genomes]
rs62019122	0.83[EUR][1000 genomes]
rs62019151	0.90[EUR][1000 genomes]
rs62019152	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62019158	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62021060	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62021061	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62021062	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7166885	0.85[EUR][1000 genomes]
rs7170460	0.85[EUR][1000 genomes]
rs8028599	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs998831	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription 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	65 gene(s)	inside rSNPs	diseases
5	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
7	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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
10	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	54 gene(s)	inside rSNPs	diseases
13	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	47 gene(s)	inside rSNPs	diseases
17	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
18	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
19	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
21	nsv431389	chr15:50795835-50979738	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
22	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv1043387	chr15:50822035-50940979	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
25	nsv1050385	chr15:50843495-50949798	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
26	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
27	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
28	nsv1055119	chr15:50861470-50900685	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50837000-50882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:50847000-50920600	Weak transcription	Aorta	Aorta
4	chr15:50847800-50872200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:50848800-50894800	Strong transcription	Liver	Liver
6	chr15:50849000-50868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:50849000-50894600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:50849200-50869000	Weak transcription	Esophagus	oesophagus
9	chr15:50849200-50874400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:50849200-50883600	Weak transcription	Pancreas	Pancrea
11	chr15:50849200-50883600	Weak transcription	Small Intestine	intestine
12	chr15:50849400-50869000	Weak transcription	Gastric	stomach
13	chr15:50849600-50871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:50849800-50872800	Strong transcription	Fetal Intestine Large	intestine
15	chr15:50850200-50870600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr15:50850400-50870400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:50850600-50872800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:50850800-50892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:50851800-50936400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:50852000-50897400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:50852200-50890200	Weak transcription	Psoas Muscle	Psoas
22	chr15:50852200-50896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:50852800-50879000	Strong transcription	Adipose Nuclei	Adipose
24	chr15:50852800-50887200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:50852800-50888600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:50852800-50893200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:50853000-50872600	Strong transcription	Fetal Thymus	thymus
28	chr15:50853000-50872800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:50855200-50879200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:50855400-50869000	Weak transcription	Fetal Brain Female	brain
32	chr15:50855600-50890200	Weak transcription	Fetal Brain Male	brain
33	chr15:50855600-50907200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:50855600-50919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:50856000-50869000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:50856400-50868800	Weak transcription	Right Ventricle	heart
37	chr15:50856400-50869000	Weak transcription	Spleen	Spleen
38	chr15:50856400-50871400	Weak transcription	HepG2	liver
39	chr15:50856400-50892600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:50857200-50875600	Strong transcription	NHDF-Ad	bronchial
41	chr15:50857400-50875000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:50859400-50892000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:50859600-50888000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:50859600-50916600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:50860400-50869000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:50860400-50872000	Strong transcription	GM12878-XiMat	blood
48	chr15:50860400-50875600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:50860600-50872800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:50860600-50872800	Strong transcription	Primary T cells from cord blood	blood

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