Variant report

Variant	rs72929838
Chromosome Location	chr1:61668703-61668704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61660663..61663375-chr1:61667664..61670072,2	K562	blood:
2	chr1:61549764..61551835-chr1:61667682..61669778,2	K562	blood:
3	chr1:61668307..61670877-chr1:61717110..61719953,3	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17121899	1.00[AMR][1000 genomes]
rs61770520	1.00[AMR][1000 genomes]
rs9436629	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	nsv1008634	chr1:61613785-61671468	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61650800-61669200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:61657400-61668800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:61659000-61669000	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:61664200-61669200	Weak transcription	HepG2	liver
5	chr1:61664400-61669200	Weak transcription	Aorta	Aorta
6	chr1:61664600-61669200	Weak transcription	Pancreas	Pancrea
7	chr1:61664600-61672600	Weak transcription	Left Ventricle	heart
8	chr1:61664600-61678400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:61664800-61679200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:61665000-61669000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:61665000-61672000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:61665000-61683800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:61665200-61668800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:61666000-61668800	Weak transcription	Esophagus	oesophagus
15	chr1:61667600-61674200	Weak transcription	HUVEC	blood vessel
16	chr1:61668000-61669400	Weak transcription	Small Intestine	intestine
17	chr1:61668200-61668800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:61668200-61669200	Enhancers	Fetal Brain Female	brain
19	chr1:61668400-61668800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:61668400-61669000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:61668400-61669000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:61668400-61669000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:61668400-61669000	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:61668400-61669200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:61668400-61669200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:61668400-61669200	Active TSS	NHDF-Ad	bronchial
27	chr1:61668400-61669200	Active TSS	Osteobl	bone
28	chr1:61668400-61669400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:61668400-61669400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:61668400-61669400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:61668400-61669400	Active TSS	NHLF	lung
32	chr1:61668400-61669600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:61668600-61668800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:61668600-61668800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:61668600-61668800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:61668600-61668800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:61668600-61668800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:61668600-61668800	Enhancers	Fetal Brain Male	brain
39	chr1:61668600-61668800	Active TSS	Psoas Muscle	Psoas
40	chr1:61668600-61668800	Flanking Active TSS	HMEC	breast
41	chr1:61668600-61669000	Active TSS	Adipose Nuclei	Adipose
42	chr1:61668600-61669000	Active TSS	Liver	Liver
43	chr1:61668600-61669000	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr1:61668600-61669000	Active TSS	Fetal Kidney	kidney
45	chr1:61668600-61669000	Flanking Active TSS	Fetal Lung	lung
46	chr1:61668600-61669000	Active TSS	Placenta	Placenta
47	chr1:61668600-61669000	Flanking Active TSS	Fetal Stomach	stomach
48	chr1:61668600-61669000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:61668600-61669000	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:61668600-61669000	Enhancers	A549	lung

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