Variant report

Variant	rs4612598
Chromosome Location	chr1:226482142-226482143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226478918..226482227-chr1:226494671..226498493,6	MCF-7	breast:
2	chr1:226482037..226484983-chr1:226498404..226500947,2	K562	blood:
3	chr1:226482044..226487010-chr1:226494990..226499067,6	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10127753	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10127776	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10127970	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10753416	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10799341	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10799343	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10799344	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10799346	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10799347	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10915964	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10915970	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1219658	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1417766	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1813323	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126573	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2126577	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2126578	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2169567	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2254723	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2377026	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2377028	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2377029	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2615799	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2615803	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666429	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2889537	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2927338	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4418563	0.82[EUR][1000 genomes]
rs6605032	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7552015	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9725097	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9729447	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4612598	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:226415800-226495400	Weak transcription	Liver	Liver
4	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
6	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
8	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
16	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
19	chr1:226456600-226483800	Weak transcription	Ovary	ovary
20	chr1:226456600-226484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:226456800-226483200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:226457000-226495600	Weak transcription	Fetal Kidney	kidney
24	chr1:226457200-226483600	Weak transcription	GM12878-XiMat	blood
25	chr1:226457200-226495600	Weak transcription	NHDF-Ad	bronchial
26	chr1:226457200-226495600	Weak transcription	NHLF	lung
27	chr1:226457400-226483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:226457400-226495800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:226460800-226496000	Weak transcription	Gastric	stomach
30	chr1:226460800-226496000	Weak transcription	Pancreas	Pancrea
31	chr1:226461000-226485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:226461200-226496200	Weak transcription	Aorta	Aorta
33	chr1:226465800-226482400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:226465800-226483200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:226467800-226496000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:226468600-226495600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:226469200-226484000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:226469600-226495800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:226470000-226489400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:226471000-226486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:226471000-226486000	Weak transcription	Lung	lung
42	chr1:226471000-226496000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:226471200-226483400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:226471800-226490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:226472000-226483600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:226472400-226495400	Weak transcription	NH-A	brain
47	chr1:226472600-226483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:226472600-226496000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:226473000-226495800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:226474600-226484400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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