Variant report

Variant	rs58416350
Chromosome Location	chr1:226352830-226352831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226351361-226355979	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226349791..226353592-chr1:226372559..226375723,4	MCF-7	breast:
2	chr1:226347075..226349830-chr1:226352587..226354541,2	MCF-7	breast:

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1043641	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10495243	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12402078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56381945	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58322813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66520928	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66527714	0.92[AFR][1000 genomes]
rs67431141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67696165	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72759068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72759069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72759091	0.87[AFR][1000 genomes]
rs72759098	0.89[EUR][1000 genomes]
rs9659809	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9662238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9725713	0.80[AFR][1000 genomes]
rs9727021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9727329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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
rs58416350	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
8	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:226331600-226353600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:226331600-226353800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:226331800-226353800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:226331800-226353800	Strong transcription	Liver	Liver
16	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:226333800-226354400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:226338200-226354000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:226338400-226353800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:226338400-226353800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:226338400-226354200	Strong transcription	Placenta	Placenta
22	chr1:226338400-226354400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:226338600-226353600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:226340200-226353200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:226343400-226353800	Strong transcription	Osteobl	bone
27	chr1:226343600-226353600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:226343600-226353800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:226343600-226353800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:226343600-226354200	Strong transcription	HepG2	liver
31	chr1:226343600-226354400	Strong transcription	Dnd41	blood
32	chr1:226343600-226354800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:226343600-226354800	Strong transcription	Primary T cells from cord blood	blood
34	chr1:226343800-226353800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:226343800-226354000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:226344000-226353800	Strong transcription	Fetal Intestine Large	intestine
37	chr1:226344200-226353600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:226344200-226353800	Strong transcription	Fetal Thymus	thymus
39	chr1:226344200-226354400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:226344600-226354400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:226345000-226354200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:226345000-226354200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:226345000-226354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:226345000-226354800	Strong transcription	Fetal Intestine Small	intestine
45	chr1:226345000-226354800	Strong transcription	Fetal Stomach	stomach
46	chr1:226345200-226353800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:226345200-226354000	Strong transcription	Colon Smooth Muscle	Colon
48	chr1:226345200-226354000	Strong transcription	Left Ventricle	heart
49	chr1:226345200-226354000	Strong transcription	Thymus	Thymus
50	chr1:226345200-226354200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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