Variant report

Variant	rs72920407
Chromosome Location	chr1:56942523-56942524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56937800..56940373-chr1:56942225..56944887,2	K562	blood:
2	chr1:56941233..56944264-chr1:57041554..57045074,3	MCF-7	breast:
3	chr1:56935156..56937645-chr1:56940992..56943740,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58527246	1.00[AMR][1000 genomes]
rs59546270	1.00[AMR][1000 genomes]
rs60328132	1.00[AMR][1000 genomes]
rs60902969	1.00[AMR][1000 genomes]
rs61194392	1.00[AMR][1000 genomes]
rs72918349	1.00[AMR][1000 genomes]
rs72918380	1.00[AMR][1000 genomes]
rs7513784	1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
4	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
8	chr1:56936000-56942600	Weak transcription	Osteobl	bone
9	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney
11	chr1:56938600-56942600	Weak transcription	Placenta	Placenta
12	chr1:56939000-56942600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:56939600-56942800	Weak transcription	Fetal Brain Female	brain
14	chr1:56939600-56942800	Weak transcription	NH-A	brain
15	chr1:56939800-56942600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:56939800-56942600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:56939800-56942600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:56939800-56942600	Weak transcription	Esophagus	oesophagus
19	chr1:56939800-56942600	Weak transcription	Fetal Lung	lung
20	chr1:56939800-56942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:56939800-56942600	Weak transcription	Spleen	Spleen
22	chr1:56939800-56942800	Weak transcription	Brain Germinal Matrix	brain
23	chr1:56940000-56942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:56940000-56942600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:56940000-56942600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:56940000-56942600	Weak transcription	Fetal Stomach	stomach
27	chr1:56940000-56942600	Weak transcription	Pancreas	Pancrea
28	chr1:56940000-56942600	Weak transcription	Right Atrium	heart
29	chr1:56940000-56942600	Weak transcription	NHLF	lung
30	chr1:56940000-56942800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:56940200-56942600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:56940200-56942600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:56940200-56942600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:56940200-56942600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:56940200-56942600	Weak transcription	Left Ventricle	heart
36	chr1:56940200-56942600	Weak transcription	NHDF-Ad	bronchial
37	chr1:56940200-56942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:56940200-56942800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:56940200-56942800	Weak transcription	Fetal Heart	heart
40	chr1:56940400-56942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:56941000-56942600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:56941000-56942600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:56941400-56942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:56941600-56942600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:56941800-56942800	Enhancers	Lung	lung
46	chr1:56942000-56942600	Weak transcription	Fetal Intestine Small	intestine
47	chr1:56942200-56942600	Enhancers	Stomach Mucosa	stomach
48	chr1:56942400-56942600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:56942400-56942600	Enhancers	Liver	Liver
50	chr1:56942400-56942600	Enhancers	Stomach Smooth Muscle	stomach

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