Variant report

Variant	rs9988629
Chromosome Location	chr1:226373442-226373443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226295550..226298881-chr1:226372449..226374303,3	K562	blood:
4	chr1:226343198..226345651-chr1:226370784..226374218,4	K562	blood:
5	chr1:226365447..226367440-chr1:226372649..226374365,2	K562	blood:
6	chr1:226343233..226345651-chr1:226372264..226374218,2	K562	blood:

Variant related genes	Relation type
ENSG00000223570	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495244	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915951	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915955	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16860230	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3008193	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61836880	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9661265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9729045	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs9988629	ACBD3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226364000-226373800	Weak transcription	Spleen	Spleen
2	chr1:226372000-226373800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:226372200-226373600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:226372200-226374800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
7	chr1:226372400-226373600	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr1:226372400-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226372400-226375000	Active TSS	NHLF	lung
10	chr1:226372600-226373600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:226372600-226373600	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr1:226372600-226373800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:226372600-226373800	Flanking Active TSS	Dnd41	blood
14	chr1:226372600-226374000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:226372600-226374200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:226372600-226374200	Active TSS	Right Atrium	heart
17	chr1:226372600-226374600	Active TSS	Fetal Muscle Trunk	muscle
18	chr1:226372600-226374800	Active TSS	HSMMtube	muscle
19	chr1:226372600-226374800	Active TSS	Osteobl	bone
20	chr1:226372600-226375000	Active TSS	HSMM	muscle
21	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
23	chr1:226372800-226373600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:226372800-226373600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:226372800-226373600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:226372800-226373600	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr1:226372800-226373600	Flanking Active TSS	Fetal Lung	lung
28	chr1:226372800-226373600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr1:226372800-226373600	Flanking Active TSS	NHEK	skin
30	chr1:226372800-226373800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:226372800-226373800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:226372800-226373800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:226372800-226373800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:226372800-226373800	Flanking Active TSS	Liver	Liver
35	chr1:226372800-226374000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:226372800-226374000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:226372800-226374000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:226372800-226374200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:226372800-226374800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:226372800-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:226372800-226374800	Active TSS	Fetal Kidney	kidney
42	chr1:226372800-226375000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:226372800-226375000	Active TSS	Left Ventricle	heart
44	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
46	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:226373000-226373600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:226373000-226373600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:226373000-226373600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:226373000-226373600	Flanking Active TSS	Brain Anterior Caudate	brain

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