Variant report

Variant	rs9729554
Chromosome Location	chr1:226342063-226342064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226336188..226337924-chr1:226340115..226342095,2	K562	blood:
2	chr1:226338792..226340771-chr1:226341760..226343637,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10732276	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10799337	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10799340	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10915952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915953	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12032630	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12047894	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2306121	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2889539	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3914142	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653718	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653722	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9286997	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9286998	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9659225	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9659397	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9660696	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9660874	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9660924	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9661836	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9662709	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9725308	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9725342	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9728014	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9728310	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9729232	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9729554	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart
3	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:226324400-226346200	Weak transcription	Pancreas	Pancrea
6	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
11	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:226331200-226342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:226331200-226342600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:226331600-226342200	Strong transcription	Osteobl	bone
16	chr1:226331600-226342400	Strong transcription	Primary B cells from cord blood	blood
17	chr1:226331600-226342600	Strong transcription	NH-A	brain
18	chr1:226331600-226342800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:226331600-226342800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:226331600-226342800	Strong transcription	Fetal Lung	lung
21	chr1:226331600-226343000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:226331600-226346200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:226331600-226353600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:226331600-226353800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:226331800-226342600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:226331800-226342800	Strong transcription	HepG2	liver
29	chr1:226331800-226353800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:226331800-226353800	Strong transcription	Liver	Liver
31	chr1:226332200-226346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:226333600-226342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:226333600-226342800	Strong transcription	Fetal Thymus	thymus
35	chr1:226333600-226343200	Strong transcription	Fetal Intestine Large	intestine
36	chr1:226333800-226342800	Strong transcription	Primary T cells from cord blood	blood
37	chr1:226333800-226343000	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:226333800-226343200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:226333800-226354400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:226334000-226342600	Strong transcription	K562	blood
41	chr1:226334200-226342600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:226336200-226342600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:226336800-226342800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:226336800-226343400	Strong transcription	GM12878-XiMat	blood
45	chr1:226337200-226342400	Strong transcription	Fetal Intestine Small	intestine
46	chr1:226337400-226342400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:226337400-226342400	Strong transcription	Ovary	ovary
48	chr1:226337400-226342600	Strong transcription	Thymus	Thymus
49	chr1:226337400-226342800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:226337400-226342800	Strong transcription	Dnd41	blood

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