Variant report

Variant	rs2487152
Chromosome Location	chr7:150944654-150944655
allele	C/G
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	MAX	chr7:150944628-150945114	A549	lung:	n/a	chr7:150944835-150944842 chr7:150944833-150944844 chr7:150944834-150944843
2	MAX	chr7:150944612-150945132	SK-N-SH	brain:	n/a	chr7:150944835-150944842 chr7:150944833-150944844 chr7:150944834-150944843
3	USF1	chr7:150944631-150945097	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
5	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
6	MAX	chr7:150944610-150945218	SK-N-SH	brain:	n/a	chr7:150944835-150944842 chr7:150944833-150944844 chr7:150944834-150944843
7	USF1	chr7:150944633-150944934	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:150944351-150946539	K562	blood:	n/a	chr7:150945786-150945794
9	MAZ	chr7:150943987-150945269	IMR90	lung:	n/a	chr7:150944835-150944842 chr7:150944833-150944844 chr7:150944834-150944843
10	MXI1	chr7:150943671-150947189	IMR90	lung:	n/a	chr7:150944194-150944203 chr7:150945408-150945423
11	ZNF263	chr7:150942876-150947378	HEK293-T-REx	kidney:	n/a	chr7:150943567-150943576 chr7:150943679-150943688 chr7:150943760-150943769 chr7:150946929-150946938 chr7:150947019-150947028
12	MAX	chr7:150944521-150946898	A549	lung:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150946726-150946735 chr7:150944834-150944843
13	NR2F2	chr7:150943966-150944866	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1870238	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2256864	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2429248	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446065	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487154	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608288	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2608292	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2608293	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2792434	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792435	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2792436	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2792444	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800792	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800793	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4725398	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4726009	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4726010	0.97[ASN][1000 genomes]
rs6464134	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6949587	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs758249	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897917	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs921987	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2487152	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150940200-150944800	Enhancers	Pancreas	Pancrea
2	chr7:150940200-150945400	Enhancers	K562	blood
3	chr7:150940800-150944800	Bivalent Enhancer	Placenta	Placenta
4	chr7:150941200-150944800	Enhancers	NHDF-Ad	bronchial
5	chr7:150941600-150945600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:150941800-150945600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr7:150942000-150944800	Enhancers	Esophagus	oesophagus
8	chr7:150942000-150945200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:150942000-150945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:150942200-150945000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:150942200-150945000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:150942400-150944800	Enhancers	Fetal Brain Male	brain
13	chr7:150942800-150945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:150942800-150945200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:150942800-150945400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:150943000-150944800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150943000-150944800	Enhancers	Brain Anterior Caudate	brain
18	chr7:150943000-150944800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:150943000-150945000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:150943000-150945000	Enhancers	Spleen	Spleen
21	chr7:150943000-150945200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:150943000-150945400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:150943200-150944800	Weak transcription	HUVEC	blood vessel
24	chr7:150943200-150945000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150943200-150945200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr7:150943200-150945400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr7:150943200-150945400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:150943400-150944800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:150943400-150944800	Enhancers	Gastric	stomach
30	chr7:150943400-150945000	Flanking Active TSS	HSMMtube	muscle
31	chr7:150943400-150945200	Flanking Active TSS	Fetal Brain Female	brain
32	chr7:150943400-150945600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:150943600-150945200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:150943800-150944800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:150943800-150944800	Enhancers	Brain Substantia Nigra	brain
36	chr7:150943800-150944800	Flanking Active TSS	Fetal Heart	heart
37	chr7:150943800-150944800	Flanking Active TSS	Fetal Lung	lung
38	chr7:150943800-150944800	Enhancers	Lung	lung
39	chr7:150943800-150945200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:150943800-150945200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:150943800-150945200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:150944000-150944800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr7:150944000-150944800	Bivalent/Poised TSS	HepG2	liver
44	chr7:150944000-150945000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:150944000-150945000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:150944000-150945000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr7:150944000-150945000	Flanking Active TSS	Ovary	ovary
48	chr7:150944000-150945200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:150944000-150945200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:150944000-150945200	Flanking Active TSS	Colon Smooth Muscle	Colon

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