Variant report

Variant	rs72665928
Chromosome Location	chr4:106112676-106112677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106111372..106113018-chr4:106117335..106120192,2	MCF-7	breast:
2	chr4:106074267..106075814-chr4:106111542..106113452,2	MCF-7	breast:
3	chr4:106112171..106113904-chr4:106125859..106128359,2	MCF-7	breast:

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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035436	1.00[ASN][1000 genomes]
rs1986799	0.89[EUR][1000 genomes]
rs1986800	0.88[EUR][1000 genomes]
rs4560414	1.00[ASN][1000 genomes]
rs4698934	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698935	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699160	0.89[EUR][1000 genomes]
rs67776122	0.86[EUR][1000 genomes]
rs72665913	0.89[EUR][1000 genomes]
rs72665914	0.89[EUR][1000 genomes]
rs72665916	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72665920	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72665924	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665926	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665931	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665935	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655049	0.87[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
2	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
3	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
4	chr4:106085600-106112800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:106098200-106113200	Weak transcription	Fetal Stomach	stomach
6	chr4:106099000-106114200	Weak transcription	Gastric	stomach
7	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
8	chr4:106101200-106112800	Weak transcription	NHDF-Ad	bronchial
9	chr4:106101600-106112800	Weak transcription	HSMM	muscle
10	chr4:106102600-106112800	Weak transcription	HSMMtube	muscle
11	chr4:106102600-106113400	Weak transcription	K562	blood
12	chr4:106102800-106127400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:106104800-106117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:106105200-106117800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:106106000-106112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:106106000-106135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:106106200-106112800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:106106200-106112800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:106106200-106112800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:106106200-106114000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:106106200-106114200	Weak transcription	Small Intestine	intestine
22	chr4:106106200-106118600	Weak transcription	Thymus	Thymus
23	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:106106400-106112800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:106106600-106125800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:106108000-106112800	Weak transcription	Ovary	ovary
27	chr4:106108000-106115400	Weak transcription	HMEC	breast
28	chr4:106108000-106123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:106108200-106112800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:106108200-106112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:106108400-106112800	Weak transcription	HUVEC	blood vessel
32	chr4:106108400-106113000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:106108400-106113200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:106108400-106114200	Weak transcription	Pancreas	Pancrea
35	chr4:106108600-106112800	Weak transcription	NHEK	skin
36	chr4:106108600-106113000	Weak transcription	Stomach Mucosa	stomach
37	chr4:106110200-106114600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:106110600-106118600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:106110800-106112800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:106110800-106114400	Enhancers	Colon Smooth Muscle	Colon
41	chr4:106110800-106114600	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:106111000-106112800	Weak transcription	Hela-S3	cervix
43	chr4:106111000-106118800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:106111200-106112800	Enhancers	Psoas Muscle	Psoas
45	chr4:106111200-106117200	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:106111400-106112800	Strong transcription	Fetal Intestine Large	intestine
47	chr4:106111400-106113000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:106111400-106113600	Enhancers	Brain Hippocampus Middle	brain
49	chr4:106111400-106114600	Enhancers	Adipose Nuclei	Adipose
50	chr4:106111600-106112800	Strong transcription	Placenta	Placenta

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