Variant report

Variant	rs7720894
Chromosome Location	chr5:60733933-60733934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10041978	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10939902	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10939903	0.81[EUR][1000 genomes]
rs11954859	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12188627	0.86[EUR][1000 genomes]
rs13169711	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13170135	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1374043	0.81[EUR][1000 genomes]
rs1986252	0.81[EUR][1000 genomes]
rs4352559	1.00[YRI][hapmap]
rs4604142	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4700418	0.93[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6449528	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6449529	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6879809	0.85[CEU][hapmap]
rs6895046	0.80[EUR][1000 genomes]
rs7701440	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7709645	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7724551	0.92[CEU][hapmap];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	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
3	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:60720400-60734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
7	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
9	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
10	chr5:60728400-60734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:60728400-60734000	Weak transcription	HSMM	muscle
12	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:60728400-60745400	Weak transcription	Ovary	ovary
14	chr5:60728600-60734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:60728600-60734000	Weak transcription	Brain Germinal Matrix	brain
16	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
17	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
18	chr5:60728800-60737600	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:60729000-60737000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:60730200-60737600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:60730400-60735800	Enhancers	Brain Substantia Nigra	brain
22	chr5:60731200-60737000	Enhancers	Brain Anterior Caudate	brain
23	chr5:60731400-60734400	Weak transcription	A549	lung
24	chr5:60731600-60736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:60732000-60734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:60732000-60737800	Enhancers	Brain Hippocampus Middle	brain
27	chr5:60732400-60736000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:60732400-60737200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:60732600-60734600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60732600-60736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:60732600-60743000	Weak transcription	Aorta	Aorta
32	chr5:60732800-60735000	Enhancers	Fetal Brain Female	brain
33	chr5:60733000-60735200	Weak transcription	Brain Angular Gyrus	brain
34	chr5:60733000-60745600	Weak transcription	Psoas Muscle	Psoas
35	chr5:60733200-60734000	Weak transcription	NHEK	skin
36	chr5:60733200-60734200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:60733200-60734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:60733200-60735200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:60733200-60735400	Weak transcription	HMEC	breast
40	chr5:60733400-60735000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:60733400-60735400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:60733400-60737400	Weak transcription	Gastric	stomach
43	chr5:60733400-60745200	Weak transcription	Pancreas	Pancrea
44	chr5:60733400-60745400	Weak transcription	Esophagus	oesophagus
45	chr5:60733400-60746800	Weak transcription	Left Ventricle	heart
46	chr5:60733600-60734200	Enhancers	Fetal Brain Male	brain
47	chr5:60733600-60735200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:60733600-60737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:60733800-60734200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr5:60733800-60734200	Enhancers	NHLF	lung

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