Variant report

Variant	rs4418563
Chromosome Location	chr1:226453618-226453619
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	chr1:226438042..226439886-chr1:226451498..226453706,2	K562	blood:
2	chr1:226453143..226455429-chr1:226463834..226465508,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10127753	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10127776	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10127970	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10753416	0.81[ASN][1000 genomes]
rs10799341	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10799343	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799344	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10799346	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799347	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10915964	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10915970	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1417766	0.83[EUR][1000 genomes]
rs1813323	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126573	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2126577	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2126578	0.82[EUR][1000 genomes]
rs2254723	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377026	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2615803	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2666429	0.81[EUR][1000 genomes]
rs2889537	0.83[EUR][1000 genomes]
rs4612598	0.82[EUR][1000 genomes]
rs6605032	0.80[EUR][1000 genomes]
rs7552015	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9725097	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9729447	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4418563	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226455400	Weak transcription	Ovary	ovary
2	chr1:226412000-226456200	Weak transcription	NH-A	brain
3	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
4	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
7	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
8	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:226415800-226495400	Weak transcription	Liver	Liver
13	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:226418400-226455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
17	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:226425000-226456200	Weak transcription	HMEC	breast
19	chr1:226425000-226456600	Weak transcription	NHEK	skin
20	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
23	chr1:226437400-226455200	Weak transcription	Hela-S3	cervix
24	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:226447200-226456200	Weak transcription	Osteobl	bone
26	chr1:226447600-226454000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:226448200-226454200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:226448200-226455600	Weak transcription	HSMM	muscle
29	chr1:226448200-226459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:226448200-226461600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:226448200-226467200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:226448400-226459800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:226448600-226456200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:226448600-226457000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:226448800-226454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:226449000-226457400	Strong transcription	K562	blood
39	chr1:226449000-226460400	Weak transcription	Pancreas	Pancrea
40	chr1:226449200-226454000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:226449200-226456000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:226449200-226457400	Strong transcription	Fetal Thymus	thymus
43	chr1:226449400-226454000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:226449400-226455200	Weak transcription	GM12878-XiMat	blood
45	chr1:226449800-226456200	Weak transcription	HepG2	liver
46	chr1:226449800-226457000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:226449800-226457600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
49	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:226450000-226455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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