Variant report

Variant	rs56405138
Chromosome Location	chr4:166126745-166126746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:
2	chr4:166114045..166117632-chr4:166124756..166128607,4	K562	blood:
3	chr4:166126423..166128941-chr4:166299614..166301287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109472	Chromatin interaction
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12498886	0.81[AMR][1000 genomes]
rs12510196	0.81[AMR][1000 genomes]
rs13110539	0.81[AMR][1000 genomes]
rs13112269	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13112952	0.81[AMR][1000 genomes]
rs13122587	0.81[AMR][1000 genomes]
rs13122965	0.81[AMR][1000 genomes]
rs13126727	0.81[AMR][1000 genomes]
rs13128755	0.83[EUR][1000 genomes]
rs13133837	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13137292	0.81[AMR][1000 genomes]
rs13146247	0.81[AMR][1000 genomes]
rs28608785	0.82[EUR][1000 genomes]
rs34045034	0.81[AMR][1000 genomes]
rs34051109	0.81[AMR][1000 genomes]
rs34160322	0.81[AMR][1000 genomes]
rs34258309	0.81[AMR][1000 genomes]
rs34284687	0.81[AMR][1000 genomes]
rs34316562	0.81[AMR][1000 genomes]
rs34358664	0.81[AMR][1000 genomes]
rs34409952	0.81[AMR][1000 genomes]
rs34471047	0.81[AMR][1000 genomes]
rs34900903	0.81[AMR][1000 genomes]
rs34995648	0.81[AMR][1000 genomes]
rs35106888	0.81[AMR][1000 genomes]
rs35171672	0.81[AMR][1000 genomes]
rs35201973	0.81[AMR][1000 genomes]
rs35209497	0.81[AMR][1000 genomes]
rs35309983	0.81[AMR][1000 genomes]
rs35350084	0.81[AMR][1000 genomes]
rs35358450	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35397148	0.81[AMR][1000 genomes]
rs35559393	0.83[EUR][1000 genomes]
rs35614407	0.81[AMR][1000 genomes]
rs35704070	0.81[AMR][1000 genomes]
rs35742826	0.81[AMR][1000 genomes]
rs35815424	0.81[AMR][1000 genomes]
rs35934050	0.81[AMR][1000 genomes]
rs36087611	0.81[AMR][1000 genomes]
rs4132378	0.82[EUR][1000 genomes]
rs41530947	0.81[AMR][1000 genomes]
rs4691167	0.81[AMR][1000 genomes]
rs4691168	0.81[AMR][1000 genomes]
rs4691170	0.81[AMR][1000 genomes]
rs55683737	0.81[AMR][1000 genomes]
rs56197253	0.81[AMR][1000 genomes]
rs66512955	0.81[AMR][1000 genomes]
rs66516986	0.81[AMR][1000 genomes]
rs66832370	0.81[AMR][1000 genomes]
rs66914762	0.81[AMR][1000 genomes]
rs67304281	0.81[AMR][1000 genomes]
rs67484468	0.81[AMR][1000 genomes]
rs67776571	0.81[AMR][1000 genomes]
rs67786105	0.81[AMR][1000 genomes]
rs68011503	0.81[AMR][1000 genomes]
rs68050566	0.81[AMR][1000 genomes]
rs68191502	0.81[AMR][1000 genomes]
rs72699558	0.81[AMR][1000 genomes]
rs72699560	0.81[AMR][1000 genomes]
rs7656134	0.81[AMR][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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166115400-166127400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:166119800-166127400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:166121000-166127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:166124600-166126800	Enhancers	NHEK	skin
5	chr4:166124800-166126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:166124800-166127800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:166125000-166126800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:166125200-166127600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:166125200-166127600	Weak transcription	Spleen	Spleen
10	chr4:166125400-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:166125400-166127600	Enhancers	Liver	Liver
12	chr4:166125400-166127600	Weak transcription	Pancreas	Pancrea
13	chr4:166125400-166127800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:166125400-166127800	Weak transcription	Gastric	stomach
15	chr4:166125600-166127000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:166125600-166127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:166125800-166127400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:166125800-166127400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:166125800-166127600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:166125800-166127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:166125800-166127600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:166125800-166127600	Weak transcription	GM12878-XiMat	blood
23	chr4:166126000-166127600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:166126000-166127600	Weak transcription	Stomach Mucosa	stomach
25	chr4:166126000-166127600	Weak transcription	NHDF-Ad	bronchial
26	chr4:166126000-166128000	Weak transcription	A549	lung
27	chr4:166126200-166127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:166126200-166127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:166126200-166127400	Weak transcription	HUVEC	blood vessel
30	chr4:166126200-166127600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:166126200-166127600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:166126200-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:166126200-166127600	Weak transcription	Brain Anterior Caudate	brain
34	chr4:166126200-166127600	Weak transcription	Fetal Brain Female	brain
35	chr4:166126200-166127600	Weak transcription	HepG2	liver
36	chr4:166126200-166127600	Weak transcription	NHLF	lung
37	chr4:166126200-166127600	Weak transcription	Osteobl	bone
38	chr4:166126200-166127800	Weak transcription	NH-A	brain
39	chr4:166126400-166127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:166126400-166127400	Weak transcription	HMEC	breast
41	chr4:166126400-166127400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:166126400-166127600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:166126400-166127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:166126400-166127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:166126400-166127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:166126400-166127600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:166126600-166126800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr4:166126600-166127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:166126600-166127600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:166126600-166127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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