Variant report

Variant	rs72886546
Chromosome Location	chr4:110598340-110598341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110353199..110355623-chr4:110596847..110599552,2	MCF-7	breast:
2	chr4:110596739..110598343-chr4:110599981..110601558,2	MCF-7	breast:
3	chr4:110597890..110598667-chr4:110725301..110725981,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138802	Chromatin interaction
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1053680	0.98[AFR][1000 genomes]
rs57247132	1.00[AMR][1000 genomes]
rs58830158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59905504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60182255	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632814	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833699	0.81[AFR][1000 genomes]
rs72886507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900779	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv508303	chr4:110579305-110604452	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv967784	chr4:110594675-110601981	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110571000-110605400	Weak transcription	Left Ventricle	heart
2	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
3	chr4:110574200-110598400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:110579200-110608400	Weak transcription	Ovary	ovary
5	chr4:110583600-110605600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:110584200-110606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:110584400-110608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:110585200-110599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:110585800-110608800	Weak transcription	Adipose Nuclei	Adipose
10	chr4:110586000-110599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:110586000-110605200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
13	chr4:110590200-110602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:110590600-110606000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:110591200-110602600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:110591200-110608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:110591600-110605000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:110592000-110611600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:110592200-110599600	Weak transcription	Thymus	Thymus
20	chr4:110592800-110603800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:110593000-110598400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:110593000-110600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:110593000-110601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:110593000-110608200	Weak transcription	Fetal Lung	lung
25	chr4:110593200-110600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:110593800-110611600	Weak transcription	K562	blood
27	chr4:110594200-110601800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:110594400-110599000	Strong transcription	Primary T cells from cord blood	blood
29	chr4:110594800-110598600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:110595200-110599600	Weak transcription	Fetal Thymus	thymus
31	chr4:110595200-110601400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:110596600-110605600	Weak transcription	GM12878-XiMat	blood
33	chr4:110596800-110601800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:110597000-110598600	Weak transcription	HepG2	liver
35	chr4:110597000-110601400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:110597000-110601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:110597000-110601600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:110597000-110605800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:110597400-110605600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:110597600-110599000	Strong transcription	Primary B cells from cord blood	blood
41	chr4:110597600-110603600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:110598200-110598400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:110598200-110598600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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