Variant report

Variant	rs12594218
Chromosome Location	chr15:62261741-62261742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10519144	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11071646	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12232347	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12438629	0.88[EUR][1000 genomes]
rs12439027	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12439366	0.86[AMR][1000 genomes]
rs12440748	0.81[AMR][1000 genomes]
rs12441358	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12441436	0.81[AMR][1000 genomes]
rs12441791	0.81[AMR][1000 genomes]
rs12442506	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12442569	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12591667	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12594396	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12595158	0.86[AMR][1000 genomes]
rs1364809	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1559673	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238110	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238127	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238189	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17238210	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17303831	0.81[AMR][1000 genomes]
rs17303866	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17303873	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2113935	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34516157	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35592904	0.86[AMR][1000 genomes]
rs36143406	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3784635	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3809516	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4774426	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4775446	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4775452	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7177538	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72747848	0.81[AMR][1000 genomes]
rs72747849	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747852	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747853	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747855	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747856	0.95[AMR][1000 genomes]
rs72747868	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747869	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72747870	0.88[AMR][1000 genomes]
rs72747874	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72747879	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72747895	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72747896	0.81[AMR][1000 genomes]
rs72747901	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72749703	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72749733	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749742	0.84[AMR][1000 genomes]
rs72749744	0.86[AMR][1000 genomes]
rs72749754	0.86[AMR][1000 genomes]
rs8023607	0.88[EUR][1000 genomes]
rs8030161	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8033347	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963023	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9635356	0.86[AMR][1000 genomes]
rs9788653	0.82[AMR][1000 genomes]
rs9788739	0.91[AMR][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	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases
3	nsv904286	chr15:62146598-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904287	chr15:62146598-62338797	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic 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
5	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv569641	chr15:62155282-62287456	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv904289	chr15:62156690-62287456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv516639	chr15:62175134-62340126	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904290	chr15:62175134-62356386	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv904291	chr15:62178695-62287456	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv904292	chr15:62178695-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv904293	chr15:62178695-62338797	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904294	chr15:62178695-62356386	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv457176	chr15:62178695-62519658	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv569643	chr15:62178695-62519658	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv904296	chr15:62198564-62313373	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv471247	chr15:62202481-62519658	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv904297	chr15:62202482-62313373	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv569645	chr15:62202482-62319307	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv569646	chr15:62202482-62519658	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	esv1816724	chr15:62205104-62285146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv569647	chr15:62214607-62284101	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv904298	chr15:62218689-62338797	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv569648	chr15:62239697-62340126	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv457177	chr15:62243197-62301094	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv569649	chr15:62243197-62301094	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv569650	chr15:62243197-62313373	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv569651	chr15:62243197-62313417	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
2	chr15:62185600-62262200	Weak transcription	Gastric	stomach
3	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
4	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:62207800-62263200	Weak transcription	Fetal Brain Female	brain
9	chr15:62208200-62263200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:62208200-62290200	Weak transcription	Aorta	Aorta
11	chr15:62214800-62265600	Weak transcription	Fetal Kidney	kidney
12	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:62223400-62266600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:62229400-62280200	Weak transcription	K562	blood
15	chr15:62230800-62317200	Weak transcription	Pancreas	Pancrea
16	chr15:62235600-62277400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:62235800-62285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:62236000-62267000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:62236200-62267000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:62237200-62264400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:62237400-62262400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:62237400-62263400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:62237600-62262200	Weak transcription	Ovary	ovary
24	chr15:62237600-62266200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:62237600-62266600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:62238000-62262200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:62239400-62266200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:62239600-62262200	Weak transcription	NHLF	lung
29	chr15:62242200-62262200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:62242400-62266400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
32	chr15:62244800-62263800	Weak transcription	Stomach Mucosa	stomach
33	chr15:62244800-62266800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:62244800-62278600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:62245000-62266800	Weak transcription	Fetal Heart	heart
36	chr15:62245800-62278400	Strong transcription	Dnd41	blood
37	chr15:62246000-62266200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:62247600-62266600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:62248000-62281400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:62248400-62266600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:62249000-62265400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:62251800-62263000	Weak transcription	Fetal Brain Male	brain
43	chr15:62251800-62265800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr15:62254000-62262200	Weak transcription	Thymus	Thymus
45	chr15:62254000-62303600	Weak transcription	Spleen	Spleen
46	chr15:62254200-62262200	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:62254200-62262200	Weak transcription	Fetal Stomach	stomach
48	chr15:62254200-62287800	Weak transcription	Lung	lung
49	chr15:62254200-62297800	Weak transcription	Fetal Intestine Small	intestine
50	chr15:62255200-62265600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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