Variant report

Variant	rs2252694
Chromosome Location	chr7:150930965-150930966
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	GATA2	chr7:150930403-150931100	SH-SY5Y	brain:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
2	POLR2A	chr7:150929056-150931065	U87	brain:	n/a	n/a
3	SIN3AK20	chr7:150929054-150931108	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:150929129-150931489	IMR90	lung:	n/a	n/a
5	POLR2A	chr7:150929161-150930968	U87	brain:	n/a	n/a
6	MXI1	chr7:150928044-150931197	IMR90	lung:	n/a	chr7:150929532-150929547
7	POLR2A	chr7:150929056-150931118	U87	brain:	n/a	n/a
8	CBX3	chr7:150929991-150930978	K562	blood:	n/a	n/a
9	TRIM28	chr7:150930590-150930970	K562	blood:	n/a	n/a
10	GATA3	chr7:150930191-150931180	MCF-7	breast:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
11	POLR2A	chr7:150930765-150931196	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:150929083-150931646	GM12878	blood:	n/a	n/a
13	MXI1	chr7:150927964-150931392	SK-N-SH	brain:	n/a	chr7:150929532-150929547
14	TEAD4	chr7:150929872-150931058	K562	blood:	n/a	n/a
15	GATA1	chr7:150928031-150931664	K562	blood:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
16	NR2F2	chr7:150929239-150931036	K562	blood:	n/a	n/a
17	POLR2A	chr7:150929224-150931668	GM12878	blood:	n/a	n/a
18	GATA1	chr7:150930281-150931052	PBDE	blood:	n/a	chr7:150930682-150930703 chr7:150930685-150930701
19	GATA3	chr7:150930072-150931076	MCF-7	breast:	n/a	chr7:150930682-150930703 chr7:150930685-150930701

No.	Distal block	Cell Line	Cell type
1	chr7:150929647..150931224-chr7:151029766..151031795,2	MCF-7	breast:
2	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
3	chr7:150930547..150933438-chr7:151037429..151040414,2	MCF-7	breast:
4	chr7:150905206..150906764-chr7:150930054..150932100,2	MCF-7	breast:
5	chr7:150929663..150931271-chr7:151251757..151253948,2	MCF-7	breast:
6	chr7:150809563..150811680-chr7:150929692..150931212,2	MCF-7	breast:
7	chr7:150707202..150709348-chr7:150929668..150931245,2	MCF-7	breast:
8	chr7:150690495..150692157-chr7:150930437..150932550,2	K562	blood:
9	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
10	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
11	chr7:150862132..150865299-chr7:150928833..150931121,3	MCF-7	breast:

Variant related genes	Relation type
MIR671	TF binding region
CHPF2	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12538502	0.87[ASN][1000 genomes]
rs2045465	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219229	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs219230	0.82[ASN][1000 genomes]
rs219233	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2487157	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608289	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2608290	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2792431	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792433	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789823	0.84[AFR][1000 genomes]
rs3807386	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807387	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236429	0.84[AFR][1000 genomes]
rs4726007	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464133	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6958591	0.84[ASN][1000 genomes]
rs7786030	0.84[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
rs2252694	ABCF2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150928800-150931000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:150929000-150931000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr7:150929000-150931000	Active TSS	Psoas Muscle	Psoas
4	chr7:150929000-150931200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:150929000-150931600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr7:150929200-150931000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:150929200-150931000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:150929200-150931200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150929200-150931200	Active TSS	NHDF-Ad	bronchial
10	chr7:150929200-150931400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:150929400-150931200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:150929800-150931000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:150929800-150931000	Flanking Active TSS	Fetal Brain Male	brain
14	chr7:150929800-150931000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr7:150929800-150931200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr7:150929800-150931400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150930000-150931000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr7:150930000-150931000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:150930000-150931000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:150930000-150931000	Flanking Active TSS	Liver	Liver
21	chr7:150930000-150931000	Flanking Active TSS	Fetal Lung	lung
22	chr7:150930000-150931000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr7:150930000-150931000	Flanking Active TSS	Placenta	Placenta
24	chr7:150930000-150931000	Flanking Active TSS	Pancreas	Pancrea
25	chr7:150930000-150931200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr7:150930000-150931200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:150930000-150931200	Flanking Active TSS	Colonic Mucosa	Colon
28	chr7:150930000-150931200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:150930000-150931400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:150930000-150931400	Flanking Active TSS	Fetal Brain Female	brain
31	chr7:150930200-150931000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:150930200-150931000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:150930200-150931000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr7:150930200-150931000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:150930200-150931000	Flanking Active TSS	Fetal Heart	heart
36	chr7:150930200-150931000	Flanking Active TSS	Fetal Thymus	thymus
37	chr7:150930200-150931000	Flanking Active TSS	Thymus	Thymus
38	chr7:150930200-150931200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:150930200-150931200	Flanking Active TSS	K562	blood
40	chr7:150930200-150931400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr7:150930200-150931400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:150930200-150931400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:150930200-150931400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr7:150930200-150931800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:150930400-150931000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150930400-150931000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:150930400-150931000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:150930400-150931000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:150930400-150931000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:150930400-150931000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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