Variant report

Variant	rs72665926
Chromosome Location	chr4:106109631-106109632
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	chr4:106066193..106069147-chr4:106108006..106111174,4	MCF-7	breast:
2	chr4:106067149..106068776-chr4:106108358..106109975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1391436	1.00[ASN][1000 genomes]
rs17035323	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035436	1.00[ASN][1000 genomes]
rs1986799	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1986800	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4560414	1.00[ASN][1000 genomes]
rs4698934	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698935	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4699160	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67776122	0.90[EUR][1000 genomes]
rs72665913	0.94[EUR][1000 genomes]
rs72665914	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665916	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72665920	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72665924	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665928	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665931	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665935	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655049	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
2	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
3	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
4	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
5	chr4:106083800-106111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
7	chr4:106085600-106112800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:106092000-106110600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:106093800-106111200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:106093800-106112400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:106094000-106112600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:106096200-106111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:106096400-106111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:106098000-106111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:106098200-106113200	Weak transcription	Fetal Stomach	stomach
16	chr4:106099000-106114200	Weak transcription	Gastric	stomach
17	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
18	chr4:106101200-106112600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:106101200-106112800	Weak transcription	NHDF-Ad	bronchial
20	chr4:106101400-106112200	Weak transcription	Right Atrium	heart
21	chr4:106101600-106112800	Weak transcription	HSMM	muscle
22	chr4:106102600-106112800	Weak transcription	HSMMtube	muscle
23	chr4:106102600-106113400	Weak transcription	K562	blood
24	chr4:106102800-106127400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:106103000-106111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:106103600-106112200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:106104800-106117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:106105200-106117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:106106000-106110800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:106106000-106112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:106106000-106135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:106106200-106110200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:106106200-106110800	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:106106200-106111000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:106106200-106111400	Weak transcription	Adipose Nuclei	Adipose
36	chr4:106106200-106111400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:106106200-106112200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:106106200-106112400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:106106200-106112600	Weak transcription	Brain Anterior Caudate	brain
40	chr4:106106200-106112600	Weak transcription	Fetal Lung	lung
41	chr4:106106200-106112800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:106106200-106112800	Weak transcription	Brain Substantia Nigra	brain
43	chr4:106106200-106112800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:106106200-106114000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:106106200-106114200	Weak transcription	Small Intestine	intestine
46	chr4:106106200-106118600	Weak transcription	Thymus	Thymus
47	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:106106400-106110600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:106106400-106111800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:106106400-106112800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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