Variant report

Variant	rs41303309
Chromosome Location	chr1:226334605-226334606
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	chr1:226334463-226335255	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:226334295-226335103	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:226334597-226335275	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:226332428-226336021	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226333102..226335693-chr1:226342114..226343895,2	K562	blood:
2	chr1:226313181..226318051-chr1:226333070..226339347,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234478	TF binding region
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11584966	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584969	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762700	1.00[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
rs41303309	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:226323400-226338400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:226323600-226338400	Weak transcription	Fetal Kidney	kidney
4	chr1:226323600-226339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:226323600-226339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart
7	chr1:226323800-226338600	Weak transcription	Fetal Brain Male	brain
8	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:226324000-226339800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226324000-226340000	Weak transcription	Stomach Mucosa	stomach
11	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:226324400-226339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:226324400-226346200	Weak transcription	Pancreas	Pancrea
14	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:226330000-226341000	Weak transcription	Psoas Muscle	Psoas
16	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:226330800-226334800	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:226330800-226336800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:226330800-226337400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:226331000-226335000	Strong transcription	Fetal Brain Female	brain
22	chr1:226331000-226336800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:226331000-226337000	Strong transcription	HSMM	muscle
24	chr1:226331000-226341600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
27	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:226331200-226334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:226331200-226335200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:226331200-226336800	Strong transcription	Placenta	Placenta
32	chr1:226331200-226337000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:226331200-226342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:226331200-226342600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:226331600-226335000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:226331600-226335400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:226331600-226335800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:226331600-226335800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:226331600-226336000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:226331600-226336800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:226331600-226338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:226331600-226340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:226331600-226342200	Strong transcription	Osteobl	bone
44	chr1:226331600-226342400	Strong transcription	Primary B cells from cord blood	blood
45	chr1:226331600-226342600	Strong transcription	NH-A	brain
46	chr1:226331600-226342800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:226331600-226342800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:226331600-226342800	Strong transcription	Fetal Lung	lung
49	chr1:226331600-226343000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:226331600-226346200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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