Variant report

Variant	rs2793684
Chromosome Location	chr1:56761923-56761924
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	0.83[EUR][1000 genomes]
rs2096086	0.83[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793663	0.84[AMR][1000 genomes]
rs2793665	0.84[AMR][1000 genomes]
rs2793666	0.84[AMR][1000 genomes]
rs2793672	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793675	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793677	0.82[EUR][1000 genomes]
rs2793681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793688	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2793690	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436537	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9436538	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9436999	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs947252	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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
rs2793684	TTC4	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56753200-56763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:56757800-56762200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:56757800-56762600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:56757800-56762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:56757800-56763000	Weak transcription	Fetal Heart	heart
6	chr1:56757800-56763200	Weak transcription	Fetal Intestine Large	intestine
7	chr1:56757800-56764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:56757800-56765200	Weak transcription	Ovary	ovary
9	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:56758000-56763000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56758000-56768000	Weak transcription	Right Ventricle	heart
12	chr1:56758600-56770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:56759800-56767600	Weak transcription	Aorta	Aorta
14	chr1:56759800-56768000	Weak transcription	Left Ventricle	heart
15	chr1:56760200-56763400	Weak transcription	Psoas Muscle	Psoas
16	chr1:56761600-56762200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:56761600-56762600	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:56761600-56762800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:56761600-56762800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:56761600-56762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:56761600-56762800	Enhancers	Fetal Thymus	thymus
22	chr1:56761600-56762800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:56761600-56763000	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:56761600-56763000	Enhancers	Right Atrium	heart
25	chr1:56761800-56762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:56761800-56762200	Enhancers	Fetal Muscle Leg	muscle
27	chr1:56761800-56762600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:56761800-56762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:56761800-56764000	Enhancers	Placenta	Placenta
30	chr1:56761800-56765800	Enhancers	HepG2	liver

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