Variant report

Variant	rs2608293
Chromosome Location	chr7:150931268-150931269
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	POLR2A	chr7:150929129-150931489	IMR90	lung:	n/a	n/a
2	POLR2A	chr7:150929083-150931646	GM12878	blood:	n/a	n/a
3	MXI1	chr7:150927964-150931392	SK-N-SH	brain:	n/a	chr7:150929532-150929547
4	GATA1	chr7:150928031-150931664	K562	blood:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
5	POLR2A	chr7:150929224-150931668	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:150930977-150931471	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
2	chr7:150930547..150933438-chr7:151037429..151040414,2	MCF-7	breast:
3	chr7:150905206..150906764-chr7:150930054..150932100,2	MCF-7	breast:
4	chr7:150929663..150931271-chr7:151251757..151253948,2	MCF-7	breast:
5	chr7:150690495..150692157-chr7:150930437..150932550,2	K562	blood:
6	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:

Variant related genes	Relation type
CHPF2	TF binding region
MIR671	TF binding region
ENSG00000164896	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1870238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242141	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256864	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414	0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2429248	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2446065	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487152	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487154	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608288	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2608292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792434	0.80[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2792435	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2792436	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3800792	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800793	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4725398	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4726009	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726010	0.89[ASN][1000 genomes]
rs6464134	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6949587	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs758249	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897917	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921987	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2608293	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150929000-150931600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:150929200-150931400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:150929800-150931400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:150930000-150931400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:150930000-150931400	Flanking Active TSS	Fetal Brain Female	brain
6	chr7:150930200-150931400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150930200-150931400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:150930200-150931400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr7:150930200-150931400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr7:150930200-150931800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:150930400-150931400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150930400-150931400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:150930400-150931400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr7:150930400-150931400	Flanking Active TSS	HUVEC	blood vessel
15	chr7:150930400-150931400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:150930400-150931400	Flanking Active TSS	NH-A	brain
17	chr7:150930400-150931600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:150930600-150931400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:150930600-150931400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:150930600-150931400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:150930600-150931400	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
22	chr7:150930600-150931400	Flanking Active TSS	Hela-S3	cervix
23	chr7:150930600-150931400	Flanking Active TSS	HepG2	liver
24	chr7:150930600-150931400	Transcr. at gene 5' and 3'	NHLF	lung
25	chr7:150930600-150932200	Weak transcription	Aorta	Aorta
26	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:150930800-150931400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:150930800-150931400	Enhancers	Primary B cells from cord blood	blood
29	chr7:150930800-150931400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150930800-150931400	Enhancers	Left Ventricle	heart
31	chr7:150930800-150931400	Genic enhancers	Lung	lung
32	chr7:150930800-150931400	Enhancers	Spleen	Spleen
33	chr7:150930800-150931400	Flanking Active TSS	HSMMtube	muscle
34	chr7:150930800-150931600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:150930800-150931600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:150930800-150931600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:150930800-150932400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:150930800-150934000	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr7:150931000-150931400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150931000-150931400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:150931000-150931400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:150931000-150931400	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr7:150931000-150931400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:150931000-150931400	Enhancers	Adipose Nuclei	Adipose
45	chr7:150931000-150931400	Enhancers	Fetal Heart	heart
46	chr7:150931000-150931400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr7:150931000-150931400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:150931000-150931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:150931000-150931600	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:150931000-150931600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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