Variant report

Variant	rs2927343
Chromosome Location	chr1:226331442-226331443
allele	C/T
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	chr1:226330672-226332204	K562	blood:	n/a	n/a
2	POLR2A	chr1:226331405-226331469	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226315099..226318031-chr1:226330803..226332605,3	MCF-7	breast:
2	chr1:226325163..226327819-chr1:226330574..226333396,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234478	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11807397	0.80[AFR][1000 genomes]
rs1219660	0.87[AFR][1000 genomes]
rs1219663	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1219665	0.92[ASN][1000 genomes]
rs1219667	0.95[ASN][1000 genomes]
rs1219668	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1219674	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1870928	0.89[ASN][1000 genomes]
rs2666860	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927340	0.90[AFR][1000 genomes]
rs2927353	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927354	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3845507	0.88[AFR][1000 genomes]
rs59720499	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9726248	0.86[AFR][1000 genomes]
rs9729999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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
rs2927343	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226318600-226331600	Weak transcription	NH-A	brain
3	chr1:226320800-226334000	Weak transcription	K562	blood
4	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
5	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:226321400-226333800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226321400-226333800	Weak transcription	GM12878-XiMat	blood
10	chr1:226321800-226331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:226322000-226331600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:226322000-226334400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:226322200-226331600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:226322200-226331800	Weak transcription	HMEC	breast
15	chr1:226322800-226333000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:226323200-226331800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:226323200-226331800	Weak transcription	Spleen	Spleen
18	chr1:226323200-226333200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:226323200-226333600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:226323200-226333800	Weak transcription	A549	lung
21	chr1:226323200-226334400	Weak transcription	NHEK	skin
22	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:226323400-226331600	Weak transcription	Fetal Thymus	thymus
24	chr1:226323400-226331600	Weak transcription	Osteobl	bone
25	chr1:226323400-226331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:226323400-226331800	Weak transcription	Left Ventricle	heart
27	chr1:226323400-226338400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:226323600-226331600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:226323600-226331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:226323600-226331800	Weak transcription	Liver	Liver
31	chr1:226323600-226333800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:226323600-226333800	Weak transcription	Esophagus	oesophagus
33	chr1:226323600-226334000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:226323600-226338400	Weak transcription	Fetal Kidney	kidney
35	chr1:226323600-226339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:226323600-226339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart
38	chr1:226323800-226331600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:226323800-226331600	Weak transcription	Fetal Lung	lung
40	chr1:226323800-226331800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:226323800-226333600	Weak transcription	Fetal Intestine Large	intestine
42	chr1:226323800-226333800	Weak transcription	Ovary	ovary
43	chr1:226323800-226333800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:226323800-226334000	Weak transcription	Right Ventricle	heart
45	chr1:226323800-226338600	Weak transcription	Fetal Brain Male	brain
46	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:226324000-226331600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:226324000-226331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:226324000-226331600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:226324000-226331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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