Variant report

Variant	rs72664369
Chromosome Location	chr1:57024666-57024667
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57023598..57027518-chr1:57041775..57046465,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162407	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10888981	0.95[EUR][1000 genomes]
rs1418521	1.00[EUR][1000 genomes]
rs17114100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114115	0.89[EUR][1000 genomes]
rs17114126	1.00[EUR][1000 genomes]
rs17114127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114133	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55927525	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58146416	0.89[EUR][1000 genomes]
rs59475580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664370	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664392	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664395	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666448	0.89[EUR][1000 genomes]
rs72666498	0.89[EUR][1000 genomes]
rs72668306	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
3	chr1:57014000-57026000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
5	chr1:57017400-57025000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
7	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
8	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:57017600-57025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57017800-57028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:57017800-57028600	Weak transcription	Pancreas	Pancrea
12	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:57019200-57026000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:57019200-57027800	Weak transcription	Fetal Brain Female	brain
15	chr1:57019200-57028400	Weak transcription	Aorta	Aorta
16	chr1:57019200-57030400	Weak transcription	HSMM	muscle
17	chr1:57019400-57027400	Weak transcription	Lung	lung
18	chr1:57019400-57027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:57019400-57030000	Weak transcription	Osteobl	bone
20	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:57019600-57027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:57019600-57027400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:57019600-57027800	Weak transcription	Fetal Brain Male	brain
24	chr1:57019600-57028000	Weak transcription	Fetal Lung	lung
25	chr1:57019600-57028400	Enhancers	Liver	Liver
26	chr1:57019800-57031400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:57020000-57028000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:57020000-57028800	Weak transcription	Stomach Mucosa	stomach
29	chr1:57020200-57031800	Weak transcription	Placenta	Placenta
30	chr1:57020400-57029000	Weak transcription	Fetal Stomach	stomach
31	chr1:57021200-57027800	Weak transcription	NHLF	lung
32	chr1:57021400-57028600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:57021400-57028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:57021400-57032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:57021800-57027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:57022000-57025600	Weak transcription	Psoas Muscle	Psoas
37	chr1:57022000-57030400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:57022400-57027400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:57022600-57028600	Weak transcription	Spleen	Spleen
40	chr1:57022800-57025000	Enhancers	Brain Angular Gyrus	brain
41	chr1:57023000-57025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:57023000-57025400	Weak transcription	Ovary	ovary
43	chr1:57023000-57026400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:57023200-57026400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:57023200-57026400	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:57023800-57024800	Enhancers	Brain Anterior Caudate	brain
47	chr1:57023800-57025600	Weak transcription	Right Atrium	heart
48	chr1:57023800-57026000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:57023800-57027400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:57023800-57027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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