Variant report

Variant	rs72822296
Chromosome Location	chr5:145549968-145549969
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	chr5:145547972..145550072-chr5:145559815..145562335,2	K562	blood:
2	chr5:145549719..145552981-chr5:145557063..145560291,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11540216	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104250	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104260	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104264	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104266	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104268	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104276	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17104293	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17104318	0.83[EUR][1000 genomes]
rs17104321	0.83[EUR][1000 genomes]
rs17104322	0.83[EUR][1000 genomes]
rs17104324	0.83[EUR][1000 genomes]
rs17104331	0.83[EUR][1000 genomes]
rs2163754	0.83[EUR][1000 genomes]
rs2895652	0.83[EUR][1000 genomes]
rs56864252	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57722184	0.86[EUR][1000 genomes]
rs58569901	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60892265	0.81[EUR][1000 genomes]
rs61455974	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66507348	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66891285	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67350755	0.97[EUR][1000 genomes]
rs67721586	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67859456	0.83[EUR][1000 genomes]
rs67897591	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6871866	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6882243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72820451	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72820464	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72822208	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822249	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822252	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822263	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72822293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72824110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72824123	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72824124	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73315720	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73317887	0.86[EUR][1000 genomes]
rs73317890	0.86[EUR][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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
9	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:145496200-145552200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:145511600-145552800	Strong transcription	Fetal Thymus	thymus
19	chr5:145511600-145556800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:145515800-145557400	Strong transcription	Liver	Liver
21	chr5:145517000-145553000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:145518800-145552800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:145519000-145551600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:145519200-145558200	Strong transcription	Dnd41	blood
25	chr5:145519400-145551800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:145520000-145551800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:145520200-145551800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:145526000-145550800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:145526200-145551600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:145526200-145553000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:145526400-145551800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr5:145526400-145551800	Strong transcription	Placenta	Placenta
33	chr5:145526400-145551800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr5:145526800-145551800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:145526800-145554000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:145532200-145559600	Weak transcription	Small Intestine	intestine
37	chr5:145532200-145561000	Weak transcription	Esophagus	oesophagus
38	chr5:145534800-145553400	Strong transcription	NHDF-Ad	bronchial
39	chr5:145535200-145550800	Strong transcription	Fetal Lung	lung
40	chr5:145535200-145559600	Strong transcription	Fetal Muscle Leg	muscle
41	chr5:145535400-145553600	Strong transcription	Osteobl	bone
42	chr5:145535600-145559600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:145536400-145553800	Strong transcription	K562	blood
44	chr5:145536600-145550800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:145537800-145560800	Weak transcription	Fetal Heart	heart
46	chr5:145538600-145551800	Strong transcription	Fetal Intestine Large	intestine
47	chr5:145541000-145560400	Weak transcription	Right Atrium	heart
48	chr5:145541600-145553600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:145542000-145551800	Strong transcription	NHEK	skin
50	chr5:145542400-145556000	Strong transcription	Fetal Muscle Trunk	muscle

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