Variant report

Variant	rs72920326
Chromosome Location	chr1:67156755-67156756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:67156632-67156758	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SGIP1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17129345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129371	1.00[AMR][1000 genomes]
rs17129373	1.00[AMR][1000 genomes]
rs72920331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920337	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72920342	1.00[AMR][1000 genomes]
rs72920353	1.00[AMR][1000 genomes]
rs72920371	1.00[AMR][1000 genomes]
rs7520767	0.89[AFR][1000 genomes];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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
2	chr1:67144600-67160800	Weak transcription	Lung	lung
3	chr1:67149200-67161000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:67152000-67162800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:67152800-67159800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:67153400-67161200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:67154200-67157200	Strong transcription	Brain Hippocampus Middle	brain
8	chr1:67154800-67156800	Strong transcription	Fetal Brain Female	brain
9	chr1:67154800-67157200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:67154800-67157400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:67155000-67157000	Strong transcription	Brain Germinal Matrix	brain
12	chr1:67155200-67158200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr1:67155400-67156800	Strong transcription	Brain Substantia Nigra	brain
14	chr1:67155400-67157000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:67155600-67156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:67155600-67159600	Weak transcription	NHDF-Ad	bronchial
17	chr1:67155600-67167400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:67155800-67157000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:67155800-67158000	Weak transcription	NH-A	brain
20	chr1:67155800-67158200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:67155800-67164600	Weak transcription	Fetal Brain Male	brain
22	chr1:67155800-67168200	Weak transcription	Fetal Heart	heart
23	chr1:67155800-67177200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:67156000-67158000	Weak transcription	Left Ventricle	heart
25	chr1:67156000-67159600	Weak transcription	NHLF	lung
26	chr1:67156000-67161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:67156000-67177200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:67156200-67158000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:67156200-67159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:67156200-67164400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:67156400-67157200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:67156600-67156800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:67156600-67156800	Genic enhancers	Aorta	Aorta
34	chr1:67156600-67157000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:67156600-67157000	Enhancers	Osteobl	bone
36	chr1:67156600-67157200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:67156600-67157200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:67156600-67157200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:67156600-67157200	Enhancers	Fetal Intestine Small	intestine
40	chr1:67156600-67158200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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