Variant report

Variant	rs2793675
Chromosome Location	chr1:56757968-56757969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10789017	0.85[EUR][1000 genomes]
rs2096086	0.85[EUR][1000 genomes]
rs2777758	0.84[AMR][1000 genomes]
rs2792774	0.84[AMR][1000 genomes]
rs2792775	0.84[AMR][1000 genomes]
rs2792776	0.84[AMR][1000 genomes]
rs2792783	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793663	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2793665	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2793666	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2793672	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793677	0.84[EUR][1000 genomes]
rs2793681	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793683	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793684	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793688	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2793690	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436537	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9436538	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9436999	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs947252	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2793675	TTC4	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56748400-56759600	Weak transcription	Aorta	Aorta
2	chr1:56753200-56763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:56756000-56758000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56756000-56761800	Weak transcription	HepG2	liver
5	chr1:56756800-56758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56756800-56758000	Enhancers	Adipose Nuclei	Adipose
7	chr1:56756800-56758000	Enhancers	Left Ventricle	heart
8	chr1:56756800-56758000	Enhancers	Right Ventricle	heart
9	chr1:56756800-56758600	Enhancers	Psoas Muscle	Psoas
10	chr1:56756800-56758600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:56757000-56758000	Enhancers	Fetal Lung	lung
12	chr1:56757400-56761600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:56757600-56758600	Weak transcription	HSMMtube	muscle
14	chr1:56757600-56761800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:56757800-56758800	Weak transcription	Lung	lung
16	chr1:56757800-56761600	Weak transcription	Right Atrium	heart
17	chr1:56757800-56762200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:56757800-56762600	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:56757800-56762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:56757800-56763000	Weak transcription	Fetal Heart	heart
21	chr1:56757800-56763200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:56757800-56764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:56757800-56765200	Weak transcription	Ovary	ovary
24	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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