Variant report

Variant	rs56124625
Chromosome Location	chr5:94815640-94815641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10054246	1.00[ASN][1000 genomes]
rs10463192	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515227	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11949551	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960723	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153544	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188620	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084869	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084910	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17084916	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084924	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964334	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161258	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909479	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3948561	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518428	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55710829	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55839939	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57529864	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59492293	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6861524	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882491	1.00[ASN][1000 genomes]
rs6883612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141965	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143927	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349776	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349780	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777191	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73777195	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777196	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777198	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73777206	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73777207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777210	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777218	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777223	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73777226	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777227	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777229	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777230	1.00[ASN][1000 genomes]
rs7534	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7705631	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716598	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs972390	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56124625	TTC37	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
4	chr5:94794800-94817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:94795200-94826600	Weak transcription	NHEK	skin
6	chr5:94797000-94817000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:94797000-94819200	Weak transcription	HepG2	liver
8	chr5:94799200-94821600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:94802000-94821600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:94802200-94816200	Weak transcription	Fetal Brain Male	brain
12	chr5:94804200-94817800	Weak transcription	Fetal Heart	heart
13	chr5:94804600-94816600	Weak transcription	Brain Germinal Matrix	brain
14	chr5:94804600-94817000	Weak transcription	GM12878-XiMat	blood
15	chr5:94804600-94821600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:94804600-94823000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:94804800-94816400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:94804800-94816600	Weak transcription	K562	blood
19	chr5:94807800-94817000	Strong transcription	Primary B cells from cord blood	blood
20	chr5:94808000-94816600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:94808000-94821600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:94808200-94821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:94808200-94822800	Weak transcription	Psoas Muscle	Psoas
24	chr5:94809000-94823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:94809800-94823000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr5:94810200-94823000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:94810200-94823000	Strong transcription	Dnd41	blood
28	chr5:94810200-94823000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:94810200-94823200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:94810200-94827400	Strong transcription	Fetal Thymus	thymus
31	chr5:94810600-94816800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:94810600-94823000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:94810600-94823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:94810600-94823200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:94810600-94827600	Strong transcription	Placenta	Placenta
36	chr5:94810800-94815800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:94810800-94821200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:94810800-94821600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:94810800-94823200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:94810800-94823200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:94811000-94816400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:94811000-94822200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
44	chr5:94811200-94817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:94811200-94823000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:94811800-94817400	Weak transcription	Osteobl	bone
48	chr5:94811800-94817600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:94811800-94821600	Weak transcription	Brain Angular Gyrus	brain
50	chr5:94811800-94821600	Weak transcription	Esophagus	oesophagus

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