Variant report

Variant	rs1053437
Chromosome Location	chr4:53461980-53461981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53461021..53463447-chr4:53475303..53476973,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17051569	0.83[AMR][1000 genomes]
rs17051574	1.00[AMR][1000 genomes]
rs17051577	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051587	0.83[AMR][1000 genomes]
rs17051624	1.00[AMR][1000 genomes]
rs17051635	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051645	0.83[AMR][1000 genomes]
rs2898678	0.83[AMR][1000 genomes]
rs61704546	1.00[AMR][1000 genomes]
rs61761593	1.00[AMR][1000 genomes]
rs73135519	1.00[AMR][1000 genomes]
rs73152438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152440	0.85[AMR][1000 genomes]
rs73152475	1.00[AMR][1000 genomes]
rs73152476	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv482581	chr4:53310749-53480710	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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
9	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53451800-53462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:53451800-53462800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:53451800-53501400	Weak transcription	Small Intestine	intestine
4	chr4:53452400-53462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:53452600-53462800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:53453000-53485400	Weak transcription	Psoas Muscle	Psoas
7	chr4:53453800-53462200	Weak transcription	Fetal Brain Male	brain
8	chr4:53453800-53462200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:53454000-53467800	Weak transcription	Brain Substantia Nigra	brain
10	chr4:53454400-53462800	Weak transcription	HepG2	liver
11	chr4:53454800-53462400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:53454800-53462600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:53454800-53462800	Weak transcription	Lung	lung
14	chr4:53454800-53485400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:53455200-53462600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:53455200-53462600	Weak transcription	Esophagus	oesophagus
17	chr4:53455400-53462600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:53455400-53462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:53455400-53473400	Weak transcription	Fetal Thymus	thymus
20	chr4:53455600-53462400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:53455600-53462600	Weak transcription	Aorta	Aorta
22	chr4:53455600-53462600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:53455600-53462800	Weak transcription	Primary T cells from cord blood	blood
24	chr4:53455600-53462800	Weak transcription	Brain Anterior Caudate	brain
25	chr4:53455800-53463200	Weak transcription	NHEK	skin
26	chr4:53455800-53466600	Weak transcription	Spleen	Spleen
27	chr4:53456000-53462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:53456000-53462800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:53456000-53472800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:53456000-53506400	Weak transcription	HUVEC	blood vessel
31	chr4:53456200-53462000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:53456200-53462200	Weak transcription	Brain Angular Gyrus	brain
33	chr4:53456200-53462800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:53456200-53462800	Weak transcription	NH-A	brain
35	chr4:53456200-53462800	Weak transcription	Osteobl	bone
36	chr4:53456400-53462200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:53456600-53462800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:53456600-53482000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:53456800-53462800	Weak transcription	HSMMtube	muscle
40	chr4:53457000-53462200	Weak transcription	Fetal Heart	heart
41	chr4:53457200-53462600	Weak transcription	Pancreas	Pancrea
42	chr4:53457600-53469800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:53458000-53462600	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:53458000-53463000	Weak transcription	Dnd41	blood
45	chr4:53458000-53463200	Weak transcription	Fetal Kidney	kidney
46	chr4:53458000-53470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:53458200-53462200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:53458200-53462400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:53458200-53462600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:53458200-53478800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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